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Home , Alagille syndrome, Alkaptonuria, Apert syndrome, Carpenter syndrome, Diabetes insipidus, Donohue syndrome

Index

A Adhalin, 152, 154 Aase–Smith syndrome, 231 a-Adhalin, 167 Abboud, M.R., 381 Adhalinopathies, 152 Abdallat syndrome, 196 Adoption, 6, 714 Abdelnoor, A.M., 383, 395 Adrenal hyperplasia, 397 Abdul-Karim, R., 383, 395 Adrenal hyperplasia congenital due to 12 Abifadel, M., 383, 413 hydroxylase deficiency (AR), 364 A-b-lipoproteinemia, 378 Adult-onset Abu Bakr al-Razi, 39 Alzheimer disease, 97 Abu Feisal, K., 378 bipolar disease, 97 Abu Haydar, N., 387 cancers, 96, 97 Abyssinia, 575 mellitus, 96 Acanthosis negricans AD, 364 disease, 97 Acardi’s syndrome (XL), 366 , 97 ACE , 578 Advanced maternal age, 329 Achalasia-alacrimia syndrome, 186 Afghanistan, 640 , 221, 274, 275, 277, 285, Afifi, A.K., 384, 386, 388 288, 289, 292, 592, 655 African continent, 575 Achromatopsia, 665 African Nilotes, 576 Acrocephalopolysyndactyly type II, 378 African populations, 595 Acrodermatities enteropathica, 249, 335, Agammaglobulinemia (XL), 366 378, 507 Agenesis of corpus callosum, Acrofrontofacionasal dysostosis, severe 650, 651 (AR), 365 AGL , 243 Acromesomelic dysplasia, Maroteaux Agyria- with agencies of corpus type, 654 callosum, 202, 667 Acroosteolysis, neurogenic, 186 Ahmed, Z.M., 423 Acro-reno-ocular syndrome, 182 Aicardi–Goutieres syndrome, 184, 226 Active X , 602 Akl, K.F., 387, 422 Adaimy, L., 385, 417 Alacrima–achalasia–addisonianism Adams–Oliver syndrome, 231 (triple-A syndrome), 544 Addison’s disease, 378 Alagille syndrome I, 378 Adenosine deaminase deficiency, 253, 548 Al-Aqeel–Sewairi syndrome, 194, 708

741 742 Index

Al-Awadi–Raas-Rothschild syndrome, Anetoderma, 254 197, 233 Angelman syndrome, 666 Al-Awadi, S.A., 378, 384, 398, 413 Angiotensin, 394–395 , 249, 590 Angiotensin-converting (ACE) oculocutaneous, 397 gene, 577 Alexander, D.A., 382, 384, 390, 415 Ankylosing spondylitis, 397–398 Al-Gazali syndrome, 200, 667 , 251 Algeria, 150 Antenatal care coverage, 78 Algerian, 185, 196, 198 Anterior , 544 Alkalosis, hypokalemic, 378 Anthropometry , 378, 535, 590, 656 birth measurements, 93 frequencies, 578 childhood stature, 93 Almawi, W.Y., 381, 385, 405, 416 Antisense oligonucleotide (ASON), 236 Alopecia, 188, 339 a-1-Antitrypsin (a 1 AT), 553 Alopecia universalis, 200 deficiency, 548 Alpha-1-antitrypsin, 335, 496 Anus, imperforate, 378 Alpha-globin gene deletion, 235 APECED, 253 Alpha-, 243 , 221 Alpha-one antitrypsin deficiency, 242 Apnea of prematurity, 398 5-Alpha-reductase deficiency, 245 ApoB-100 R3500Q , 378 5-Alpha-reductase type2, 246 Apolipoprotein E, 398 Alpha thalassemias, 7, 8, 236, 364 Apple-peel syndrome AR, 365, 507 , 311, 312 Arab, 588 Alport’s syndrome (XL), 366 Arab Bedouins, 654 Al-Ruhawi, 4 Arab countries, 4–8, 12, 14, 17, 20, 22 Alstrom syndrome, 543 ancestry, 577, 586 Al-Tabari, 4 culture, 6 Al Taweel, 581 , 9, 10 Al-Thani, 516 family, 6, 16 Al Zaiem Al Azhari University, 580 fertility, 46, 49 Alzheimer disease (AD), predisposing history, 3 genetic risk factor, 621 league, 4 Ambiguous genitalia, 602 minorities, 6 Amelia, X-linked, 205 population dynamics, 40, 45–48 American University Hospital, 377, 419 societies, 85–92, 97, 99 disorders, 590 world, 4, 5, 8, 10, 12, 14, 18, 21–23 Aminoacidopathies, 361, 503 Arabia, 575, 577, 597, 640, 647 , 643 Arabian gulf, 4, 639, 640 Amyloidosis, 112 states, 584 Ancient , 221, 273–294 Arabian peninsula, 4, 9, 15, 16, 153, 645, 646 Anderson’s continuum, 72 Arabic language, 4 end organ non Arabs, 575, 590, 640–643, 649 responsiveness, 245 descent, 576, 583 Androgen receptor (testicular nomads, 575 syndrome) (XL), 366 origin, 587, 588 Anemia, dyserythropoietic congenital, populations, 643 Type I (AR), 365 tribes, 596, 639 Anencephaly, 597 world, 643 Index 743

Arachnodactyly, 228, 231 Auto-inflammatory, 111, 116, 126, 131 Arayssi, T.K., 379, 400 disorders, 8 ARCI. See Autosomal recessive congenital Autosomal dominant (AD), 9, 20–21 condition, 483–484 Arginase deficiency, 535 hereditary paraplegia, 226 Argininosuccinic aciduria (ASA), 367, 535 Autosomal recessive, 678–680, 685–693, Aringa, 582 695–697 Aringa ethnic group, 582 cerebellar hypoplasia with cerebral gyral Armenian, H.K., 382, 386, 408, 409 simplification, 650 Armenians, 5, 8 epidermolytic palmoplantar Arnold, W.P., 417 , 186 Arranged marriage, 85, 98, 99 gene, 247 , 167 , 652 Arterial tortuosity syndrome (ATS), 520, , 232 523, 547 spastic paraplegia with thin corpus Arthrogryposis multiplex congenita, 230 callosum, 662 Arthrogryposis, renal tubular dysfunction, Autosomal recessive anophthalmia/ and cholestasis (ARC) syndrome, 548 , 665 Arthropathy, progressive, Autosomal recessive and pseudorheumatoid, 398 ophthalmoplegia (ARCO), 169 Arylamine N-acetyltransferase, 395 Autosomal recessive cerebellar Arylsulphatase A pseudodeficiency, 242 ataxias, 599 Asphyxiating June thoracic Autosomal recessive congenital ichthyosis dystrophy, 507 (ARCI), 248 , 588 Autosomal recessive (MIM No. Asthma, 252 219200), 599 Ataxia, cerebellar, congenital, 378, 379 Autosomal recessive disease, 502 Ataxia-deafness-retardation syndrome brain structural defects, genetic (AR), 186, 364 diseases, 481 Ataxia-microcephaly-cataract childhood morbidity, mortality and syndrome, 186 handicap, 477 Ataxia telangiectasia (AT), 331, 399, congenital blindness and deafness, 483 447, 527 disorders, 7, 10, 11, 22, 327, 496–502 Ataxia telangiectasia-like disorder ethnic and genetic diversity, 477 (ATLD), 541 hemoglobin disorders, 477 Ataxia with oculomotor apraxia type immunodeficiencies and chromosomal 2 (AOA2, MIM No. 606002), 599 instability syndromes, 481 Ataxia with selective vitamin E deficiency inborn errors of metabolism, 478 (AVED), 197 neurodegenerative disease, 480 Athabaskan brain stem dysgenesis neurogenetic disorders, 478–480 syndrome, 198 neurologic dysfunction, genetic Atopic , 248, 658 diseases, 481 with various cardiac and neuromuscular disorders, 480 noncardiac anomalies, 182 neuromuscular disorders, genetic Atrophic benign EB, 599 diseases, 481 Autoimmune diseases (AITDs) disorders, 480 linkage analysis, 622 skeletal dysplasias and structure susceptibility gene, 622 diseases, 481 744 Index

Autosomal recessive Ehlers Danlos Berber, 5 syndrome (type I), 452 Beta thalassemias, 7, 8, 235, 367, 525 Ayoub, N., 382, 407 gene , 235 Azar, H.A., 387 Iraq, 311–312 phenotype, 235 Beutler, E., 410 B Bidinost, C., 379, 400 Bacterial infections, 585 Bifid nose Baggara, 577, 590, 592 renal agenesis and anorectal Baggara tribal, 583, 588 malformations, 200 Baghdassarian, S.A., 378, 379, 381–388 renal and rectal malformation, 667 Bahrain, 4, 5, 7, 20 acid synthesis defect, 536 Bahraini, 664 Bilharzia-associated bladder cancer Baluchistan, 645 (BAC), 600 Baluchis, 640, 646, 661 Bilharziasis, 580 Bamforth-like syndrome, 667 Biliary malformations, 379 Bangladesh, 640 renal tubular insufficiency, 186 Bantu, 586 Binary polymorphisms, 577 Baraka, A., 378, 386, 387 Bio-engineering, 710, 711, 718 Barakat, A.Y., 378, 386, 387 Bioethics, 706 Barbari, A., 403 Biotinidase deficiency, 242, 535 Bardet–Biedl syndrome 5 (AR), 366 Biotin-responsive basal ganglia disease, Bardet–Biedl syndrome (BBS), 17, 254, 536 367, 399, 499–500, 542, 648 Birth defects, 596 Bardet–Biedl syndrome 1990a (AR), 364 Birth incidence of malformations, 223 Bartsocas-Papas syndrome, 527 Birt–Hogg–Dube syndrome, 249 , type 4, 400 Birth rate, 354 Batten’s disease, 522 Births attended by skilled health Becker muscular dystrophy (BMD), 150, professionals, 79 161, 163, 331, 539 Bitar, E., 379, 383 Beckwith–Wiedemann syndrome, 666 Bitar, J.G., 380, 382, 388, 403 Bedouins, 5, 6, 11–13, 15–20, 22, 186–189, Bladder cancer 191, 195–198, 200, 204, 640, 641, 647, case-control studies, 628 648, 651 detoxification of xenobiotics, 627 Bedouin spastic ataxia, II (AR), 366 disease susceptibility, 627 Bedouin spastic ataxia syndrome, high risk, 628 363, 366 polymorphism, 628 Bedouin tribes, 499 Bleeding disorders, 590 Beh| et syndrome, 398, 400 ––telecanthus– Beighton, P., 406 epicanthus inversus, 546 Beirut, 389, 391, 393, 398, 402, 403, 411, Blibech, R., 383, 420 419–421, 425 Blindness, 332, 501 Beja, 583, 588, 594 childhood, Iraq, 316 Beja tribal group, 594 groups, 495 Ben Ezra, D., 387 Iraq, 300–303 Benin, 586 Blue Nile, 580, 583 Benin haplotype, 237 Bonafede, R.P., 406 Berardinelli–Seip syndrome, type 2, 384 Bone dysplasias, 655 Index 745

Borjeson–Forssman–Lehmann CAHMR, 186, 204, 255 syndrome, 543 Calcinosis, tumoral, with Bosley–Salih–Alorainy syndrome, 198, 550 hyperphosphatemia, 379 Bou-Dames, J., 387, 421 Callosal dysgenesis, 226 Boustany, R.M., 423 Camel milk, 595 Boyadjiev–Jabs–Eyaid syndrome, 183 Cameroon, 586 Brachmann de Lange syndrome, 254 , 188 , 228 Camptodactyly, arthropathy, and coxa vara type A1, 232 (CAC syndrome), 544 Brain malformation, 650 Camptodactyly-arthropathy-coxa Branchial myoclonus with spastic vara-pericarditis (CACP), 231, 544 paraparesis and cerebllar ataxia Canaanites, 4 (AD), 364 Canavan disease, 534, 535 Branchiogenic-deafness syndrome, 184 Cancer, 504 BRCA2 exon 11, 599 , 506, 551 BRCA1-ineracting 1; BRIP1 colorectal, 506 (AD), 367 diffuse large B- lymphoma Breast cancer, 467, 599, 600 (DLBCL), 551 aggressiveness, 629 , 599 BRCA1, 629 incidence, 505 BRCA2, 629 , 506 cancer risk, 629 , 505 genetic association, 629 nervous system, 506 increase in incidence rate, 629 papillary thyroid cancer, 551 low penetrance, 629 prostate, 506 most frequent cancer, 629 Carbamoyl phosphate synthase North African founder allele, 629 deficiency, 367 overall disease survival, 630 Carbohydrate disorders, 591 penetrant , 629 Carbonic anhydrase II deficiency, 16 sporadic cases, 629 Cardiofaciocutaneous syndrome, 254 susceptibility, 629 Cardiogenital syndrome, 187, 379 Tunisian index cases, 629 , 166, 167, 546 xenobiotic metabolizing enzyme, 630 congestive with hypergonadotropic Brenner, B., 424 , 187 Brittle syndrome, 546 congestive with hypogonadotrophic Broad beans (fava beans), 588 hypogonadism, 379 Brook, C.G., 385 familial hypertrophic, 379 Brother and sister marriages, 222 Cardioskeletal syndrome, Kuwaiti type Brown–Vialetto–Van Laere syndrome, 400 (AR), 187, 363, 364 Bruck syndrome, 666 , 235, 378 Bullous congenital icthyosiform, 233 Carrier rate, 235 Bundle branch block, 182, 411 Carrier screening, 80, 235 Buresi, C., 387 hypoplasia, 545 Burkina Faso, 580 Cataract, 501 congenital, 379 microphthalmia, and , 187 C posterior polar, 400 Cabannes, R., 387, 419 Catechoaminergic polymorphic ventricular CADASIL, 542 tachycardia, 667 746 Index

Cathepsin C gene, 249 Temtamy type, 202 Caylor syndrome, 507 Chondrodysplasia puctata, 655 CBAVD. See Congenital bilateral absence Chorea-acanthocytosis, 541 of the vas deferens Chorionic villus sampling, 643 CDC42 gene, 165 Choueiri, R.N., 382, 407 Celiac disease, 379 Christianity, 6 Cenani–Lenz syndrome, 231 Christian kingdom of Nubia, 575 Center for Arab Genomic Studies, 100, Christians, 390–392, 397, 403, 404, 408, 643, 644 409, 416, 419, 420, 422, 576 Central Sudan, 587, 598 Chromosomal abnormalities, 224, 356, 357, Cerebellar hypoplasia, 651 456–457, 496, 601 Cerebellar vermis hypoplasia, 651 Chromosomal disorders, 329 Cerebro-oculo-facio-skeletal syndrome, 504 Chromosomal G-bonding, 602 Cerebrooculofacioskeletal (COFS) Chromosomal rearrangements, 477 syndrome, 254 Chromosome aberrations, Down Cerebrotendinous xanthomatosis, 536 syndrome, 95 Certification and 5 translocation, 380 American Board of Genetic Chromosome (7)(p22.1pter) Counseling, 727 duplication, 380 Canadian Association of Genetic Chromosome 1p36, 165 Counsellors, 727 Chromosome 5p13.1, 166 CFTR. See Cystic fibrosis transmembrane Chromosome 22q12, 582 conductance regulator Chromosome 5q12 deletion, 380 Chad, 588 Chromosome 6q22-q23, 581 Chad area, 582 Chronic infantile neurologic cutaneous and Chaib, H., 380, 404 articular syndrome, 131 Charcot–Marie–Tooth disease, 379, 401, Chronic progressive external 463, 540, 597 opthalmoplegia and skeletal muscle CMT4F, 401 involvement, 447 Chediak–Higashi syndrome (AR), 337, Chronic recurrent multifocal osteomyelitis, 364, 666 127–129, 201, 337 Chehab, F.F., 387, 420 Chronic renal failure, 336 Chelation therapy, 236 Chu, E.T., 384 Childhood blindness, 249 CIAS1, 131 Childhood epilepsy, 330 Ciliary discoordination due to random Childhood morbidity ciliary orientation, 187 blindness, 94 Ciliary dyscoordination, 380 congenital disorders, 94 Ciliary dyskinesia, 335 deafness, 94 Circassians, 5 dental anomalies, 94 (Cit), 364, 535 Childhood onset glomerular Clasped thumb clubfoot syndrome, 230 disease, 665 Cleft lip and palate, 253, 334 CHIME-like syndrome, 667 Clinical anophthalmia (AR), 365, 367 Chloride , familial (AR), 364 Clinical presentations, 235 Chondrodysplasia Cloning, 717–719 anomalies of multiple systems, 401–402 CLSD, 183 Khaldi type, 202 CMD. See Congenital muscular dystrophy multiple dislocations, 401 CNS Index 747

disorders, 224 Congenital deafness, 251–252, 361 malformations, 225 Congenital diseases in Sudanese Coagulation defects, 238–239 children, 601 , 542, 666 Congenital dyserthropoietic anemia, 201 Code, 705, 712 Congenital dyserythropoietic anemia Coffin–Lowery syndrome (XL), 366 type I, 539 Coffin–Siris syndrome, 233, 251, 666 Congenital erythropoietic porphyria (AR), COFS syndrome. See 366 Cerebrooculofacioskeletal (COFS) Congenital fibrosis of extraocular muscles syndrome (CFEOM), 545 Cohen syndrome, 254, 402, 648 Congenital/genetic disorders, 475 Coinheritance, 235 community genetic services, 476 Colchicine therapy, 114, 239 consanguinity, 476 VI, 160 genetic disease prevention, 476 , 201, 251 genetic technology value, 476 Colorectal cancer, 467 genomics application, 476 constitutional mutations, 631 Congenital glaucoma, 247, 665 hereditary form, 631 Congenital heart disease, 334, 601 sporadic, 631 Congenital hereditary endothelial Complementation types, 237 dystrophy, 546 Complement profiles, 585 Congenital hypothyroidism (CH), 240, 333, Complements C3 and C4, 586 359–360, 448, 450, 452, 521, 543, 593, Cone-rod dystrophy and amelogenesis 601, 642 imperfecta, 187 Congenital ichthyosis, 658 Congenital adrenal hyperplasia (CAH), 240, Congenital insensitivity to , 547, 661 339, 360, 367, 448, 465, 501, 642 Congenital Leber’s amourosis, 665 CYP21, 622 Congenital lipoid adrenal hyperplasia, 543 homozygous, 622 Congenital malformations (CMs), 223, 496, 3b-hydroxylase deficiency, 543 596, 597 11b-hydroxylase deficiency, 543 Iraq, 306–308 3b-hydroxysteroid dehydrogenase type II Congenital muscular dystrophy (CMD), deficiency, 543 159–161, 331, 462, 539 21-hyroxylase deficiency, 543 Congenital muscular dystrophy 1B, 660 mutational spectrum, 622 Congenital myasthenic syndromes (CMS), nonfunctional enzyme, 622 447, 540, 598 Congenital afibrinogenemia, 539 consanguineous, 620 Congenital alopecia areata, 249 founder event, 621 Congenital anomalies, 445, 449 North African, 620 Congenital atrichia, 547 Congenital myopathies, 166–168 Congenital bilateral absence of the vas Congenital , 664 deferens (CBAVD), 252 Congenital , 336 Congenital bowing disorder, 668 Congenital sensorineural deafness, 451 Congenital cataract, 250, 256 26 mutations, 18 Congenital chloride diarrhea (CLD), 14–15, Conotruncal malformations (AR), 365 367, 547 Consanguineous, 6–7, 11, 16, 596 Congenital contractural, 231 Consanguineous marriages, 222, 355–356 categories, 230 Iraq, 300–302 Congenital cutis laxa, 547 rate of, 377, 403, 420 748 Index

Consanguinity, 7, 16, 18–20, 22, 327–328, Cultural beliefs 392–393, 398, 402, 403, 407, 411, 414, cauterization, 738 418, 424, 445, 450, 451, 494–496, 576, evil eye, 738 708, 710, 713. See also First cousin intergenerational conflict, 738 marriages traditional healers, 738 consanguineous, 653, 657, 662 Cultural diversity, 39 consanguineous marriages, 641 Curative and preventative care, 66 cultural practice, 734 Cushing disease, 380 economic factors, 734 Cutaneous and neurocutaneous impact on genetic conditions, 735 disorders, 599 rates, 734 Cutaneous porphyria, 248, 249 social factors, 734 Cutis verticis gyrata, 199 social importance, 735 /holoprosencephaly, 507 types, 734 CYP2C19, 334 WHO position on, 735 CYP21 mutations, 245, 246 Consent, 709, 710, 719, 720 Cystic fibrosis (CF), 252, 334, 403, Consumer-centered care, 67 468–469, 520, 547, 594, 647 Contemporary attitudes, secular changes, 91 carrier frequency, Contraception, 714 genetic variations, 623 deformities, 228 helicobacter gastritis, megaloblastic Control of teratogens, 712 anemia and subnormal Convulsive disorders, 225 mentality, 365 familial, with prenatal or early onset, 187 helicobacter pylori-gastritis, Cord blood transplantation, 718–719 megaloblastic anemia subnormal Corneal dystrophy and perceptive deafness, mentality (AR), 365 187, 380 incidence, 15, 498 Cornea plana, 546 mutations, 15, 499 Cornelia de Lange’s syndrome AD, 364, novel mutations, 623 602, 666 Cystic fibrosis transmembrane conductance Coronary disease (CAD), 551, 552 regulator (CFTR), 647 Counseling, 708, 720 (AR), 365, 367, 534, 535, 590 Courbage, Y., 392 Cytogenetic, 80, 81, 327 COX, 170 Cytogenetic abnormalities, 601 COX6B1 gene, 170 Craniofacial dysmorphism, 187 Craniofacial–hair–finger caudal D syndrome, 364 Dabbous, I.A., 419 Craniolenticulosutural dysplasia, 183 DABI stain, 232 Craniosysnostosis, 202 50 DAG adhalin, 152 CRASH syndrome, 651 35 kDa DAG deficiency, 156 Creutzfeldt–Jakob disease, 446, 452 Dagoneau, N., 388, 424 Crigler–Najjar syndrome, 548 Danagla, 583 Crisponi syndrome, 662 Dandy–Walker malformation, 650 Crouzon carniofacial dysostosis AD, 364 Daraweesh village, 580 Crusades, 5, 14, 492 Darfur, 586 Cryopyrinopathies, 131–132 Darwish, M., 386 C-terminal titin deletions, 597 Database, 643, 644 Cultural awareness, 721 D-CHRAMPS syndrome, 331 Index 749

Deafness, 202, 593, 596, 647 , diabetes mellitus, optic autosomal recessive 31, DFNB31, 200 atrophy, and deafness (DIDMOAD), autosomal recessive 33; DFNB33, 200 451, 593 branchiogenic, 405 Diabetes, Iraq, 315–316 Iraq, 316–317 Diabetes mellitus (DM), 338, 360, 405, 424, neurosensory, autosomal recessive, I, 188 551, 552, 593 sensorineural, 400, 402 neonatal, with congenital sensorineural, autosomal- hypothyroidism, 183 mitochondrial, 186 Diaphragmatic hernia, 504 DeAngelis, M.M., 388, 423 Diaphragm, 365 Deeb, Z., 378 , 233, 381 Defect of metabolism, 600 DIDMOAD. See Diabetes insipidus, Definition of diabetes mellitus, optic atrophy, and American Society of Human Genetics deafness (ASHG), 725 Digestive system, 594 Clarke Fraser, 725 Digitotalar dysmorphism, 230 National Society of Genetic , 167, 601 Counselors, 726 Dinka, Nuer, and Shilluk, 583 Sheldon Reed, 725 Disability, 291 Delague, V., 378–380, 397, 399, 401 Disease susceptibility, 580 De Laurenzi, V., 422 Disorders of hemostasis, 590 de Longh, R.V., 380 Disorders of sexual differentiation Delta beta thalassemia, 235 (DSD), 245 De Meeus, 379 Distal anterior compartment myopathy, 154 De Moerloose, 382, 408 Distichiasis, 381 Demographic correlates, 90–91 Diversity and Conflict of civilizations, 39 Demographic transition, 37, 40, 47, 54, 61 DMD. See Duchenne muscular dystrophy Denaturing gradient gel electrophoresis DNA fingerprinting, 711 (DGGE), 241 Doctors and hospital beds ratios, 52 Denoyelle, F., 380, 404 Donation of a sperm, 714, 715 Density of and nurses, 69 Dongola, 575 Department of pediatrics, 590 Donnai–Barrow syndrome, 527, 543, 649 Der Kaloustian, V.M., 377–425 , 381 Dermodistortive urticaria, 182, 380 Dopa-responsive dystonia (Segawa De Sanctis–Cacchione syndrome, 380 disease)–like, 598 De Sandre-Giovannoli, A, 379, 380, 401 Dorfman–Chanarin syndrome, 248 Desbuquois syndrome, 654 Down’s syndrome, 356, 381, 446, 452, 595, Desgeorges, M., 380, 403 601, 643, 650 De Vaumas, E., 389–391 Iraq, 309–310 Developed nations, 67, 68, 72, 75 prenatal, 619 Developing countries, 75, 709–710 screening strategy, 618 Dextrocardia, 188 termination of , 619 DGGE. See Denaturing gradient gel Drousiotou, A., 387, 419 electrophoresis Druze, 5, 7, 14, 20, 390–395, 399, 403, 404, D-glyceric acidurias, 535 406, 407, 409, 410, 419, 421, 494, 496 DHA, 244 Duane/Radial dyplasia(DR), 255 Dhaini, H.R., 378, 379, 395 Duchenne, 161–163 Diabetes insipidus, 424, 504, 593 Duchenne-like autosomal recessive MD, 148 750 Index

Duchenne-like muscular dystrophy Becker muscular dystrophy (BMD), 461 (SARCMD), 367 Duchenne muscular dystrophy Duchenne muscular dystrophy (DMD), (DMD), 458 145–147, 149, 161, 162, 163, 227, 331, 366, 447, 539, 597 Dudin, G., 380, 386 E Dudin–Thalji syndrome, 189 Early behavioural disorders , pyloric, 188 , 96 Dup(1)(p36.1-36.2), 231 intelligence quotient (IQ), 96 Du-pan syndrome, 232 learning and reading difficulties, 96 Dupuytren contracture, 230 Early onset cerebellar ataxia with retained Dwarf, 274–278, 285–289, 293–294 tendon reflexes, 447 Dwarfism, 221 Early-onset myopathy, 601 dyssegmental, 504 Early onset PD (EOPD), 598 Rhizomelic short limbed, 504 Early postnatal mortality, reproductive Dyggve–Melchior–Clausen syndrome, 229, compensation, 94 397, 406, 653 East Africa, 577 Dyschromatosis universalis hereditaria Eastern Saudi Arabia, 584 (DUH), 547 Eastern Sudan, 580, 582 Dysferlin, 154 EB simplex, 599 DYSF gene, 154 EB simplex lethalis, 600 Dyshormonogenesis, 593 ECP 434 CC genotype, 581 , 249, 548 , 552 hidrotic, 381 Dystonia 17, torsion, autosomal recessive hidrotic, autosomal recessive, 199 DYT17, 202 hypohidrotic, 406 a-Dystroglycan, 158, 160 with sensorineural deafness, 381 b-Dystroglycan, 158, 167 , 332, 406–407 b-Dystroglycan deficiency, 158 , ectodermal dysplasia, macular Dystroglycan gene, 158 dystrophy (EEM) syndrome, 231 Dystrophia myotonica, 661 EDA1 mutation, 381 Dystrophic (DEB), EDAR mutation, 381 237, 657 Edward syndrome, 602 autosomal dominant, 626 EEC syndrome, 231 consanguineous families, 626 Effectiveness, 66, 77 deleterious mutation, 626 Efficiency, 78 recessive, 626 Egypt, 588 type VII collagen gene, 625, 626 Egyptian, 7, 9, 12 Dystrophin, 149–151, 154 Egyptian population, 581 50 kDa Dystrophin-associated Ehlers–Danlos syndrome (AR), 365, 382 glucoprotein, 152 Ehlers–Danlos syndrome, type IV-D, 189 Dystrophin associated (DAPs), Ehlers–Danlos syndrome type VIA 158, 597 (EDSVIA), 656–657 Dystrophin gene, 162–163 PLOD1, 656 deletion, 228 Eldahdah, L.T., 425 Dystrophin– complex El Ghouzzi, V., 406 (DGC), 150 Eljalde syndrome, 249 Dystrophinopathies Ellis–van-Creveld syndrome, 229, 452, 654 Index 751

El-Rassy, I., 378 Eye, anterior segment defects, clefting and El-Shanti syndrome, 200 skeletal anomalies, 200 El-Zahabi, L.M., 382, 410 Eye–brain–muscle syndrome, 650 Embryo development, 716 Emiratis, 578 , 597 F Encephalopathy, 168 Facial anomalies, 649 Endemic diseases, 578 Faciodigitogenital syndrome, 363 Endemic goiter, 592 Kuwaiti type (AR), 189, 365 Endocrine disorders, 359–360, 592 Facioscapulohumeral muscular dystrophy, Endogamy, 6–7 331, 447 clan, 92, 96, 99 Faciothoracogenital syndrome, 189 hamula, 85 Factor V and factor VIII deficiency, 539 tribe, 92, 96, 99 Factor VII deficiency, 590 Enterocolitis, necrotizing, 407 Factor V Leiden, 407–408 Enteropathy, protein losing, 189 Iraq, 314 Enzyme replacement therapy, 243 Factor V R2 (H1299R) polymorphism, 408 Eosinophil cationic protein (ECP), 581 Factor XI deficiency, 408 Epidermolysis bullosa (EB), 407, 504, Factor XIII deficiency, 408 507, 599, 657 Faculty of medicine, 579, 582 with diaphragmatic hernia, 189 Fadhil, M., 385, 417 junctional, 524, 547 Faivre, L., 388, 424 simplex, 547 Falciparum malaria, 578, 579 simplex lethalis, Salih type, 189 Familial cold autoinflammatory Epstein, P.A., 380 syndrome, 131 ERIS, 332 Familial hypercholesterolemia, 465 Erythroderma, 233 Familial hypercholestrolemia type IIA lethal congenital, 189 AD, 364 variabilis, 659 Familial hypophosphatemic rickets, 360 Erythropathogocytic Familial hypoplasia, 245 lymphohistiocytosis, 507 Familial Mediterranean (FMF), Ethics, 4, 705–707, 718, 721 111–117, 239, 337, 365, 367, 396, Ethiopians, 577 408–410, 468, 545 Ethnic communities, 377, 394 Arabs, 624 Ethnic composition of the Sudanese autosomal recessive, 624 population, 576 carrier rate, 239 Ethnic diversity, 5 incidence, 498 Ethnic groups, 586 Iraq, 314–315 Ethnic origins, 238 MEFV mutations, 624 Europe, 640 migrations, 624 European, 492, 496 mutations, 8, 239, 498 EVC1, 654 Familial paroxysmal polyserositis (FPP), EVC2, 654 396, 408–410 EVC, EVC2, C4orf6 and STK32B, 229 Family size, 5, 22 Expatriates, 639 Fanconi anemia-like dysmorphic Extended family, 5 syndrome, 203 Extended metabolic screening, 240 Fanconi’s anemia (FA), 231, 237, 251, protein 1 (AR), 366 365, 382 752 Index

autosomal recessive, 618 FFU syndrome, 231 families, 618 FGFR3 mutation, 229 new polymorphisms, 618 , 653 Fanconi’s syndrome, 592 Fibrodysplasia ossificans progressiva Fares, F., 379, 399 AD, 364 Fargues, P., 392 Fibromatosis, juvenile hyaline, 382 Farra, C., 380, 403 Fibular aplasia or hypoplasia, 190 Fascioscapulohumeral MD, 145 Figueiredo, M.S., 412 Fatty acid oxidation defects MSUD, 240 First cousin marriages, 494 Fatty acid oxidation disorders (FAOD) First cousins, 6, 7, 494 carnitine acylcarnitine translocase Bint amm, 88, 89 deficiency, 536 Firzli, S.S., 419 carnitine palmityl transferase I Fischel-Ghodsian, N., 409 deficiency, 536 Fleck , familial benign, 190 carnitine transporter defect, 536 Fluorescent in situ hybridization (FISH), long-chain 3-hydroxyacyl-CoA 245, 254, 602 dehydrogenase deficiency, 536 F508 mutation, 252 medium-chain acyl-CoA dehydrogenase a-Foetoprotein, 599 deficiency (MCAD), 536 Founder effect, 11, 15, 17, 20, 502 very long chain acyl-CoA dehydrogenase Founder gene, 246 deficiency (VLCAD), 533, 536 , 224, 541 Fatwas, 709, 717 , 649 adoption, 731 Frayha, R.A., 378, 384, 386–388 assisted reproduction, 729 Freeman, 230 bio-engineering, 733 Fregin, A., 388, 424 cloning, 732 Freij, B.J., 386 contraception, 732 Frequency of parental consanguinity, 223 cord blood transplantation, 733 Fresh legumes, 588 definition, 729 Fried, K., 407 DNA fingerprinting, 733 Friedreich ataxia, 447 molecular genetics, 733 Fructose-1,6-diphosphatase deficiency preimplantation genetic diagnosis, 729 (AR), 365, 382, 536 premarital screening, 732 Fructosuria, nonalimentary, 382 somatic gene therapy, 733 Fryns, J.-P, 416 sterilization, 732 Fukushima, K., 404 teratogens, 731 Fukutin-related protein (FKRP), 158, 160 termination of pregnancy, 729 Fukuyama type, 159 Fayad, M.N., 382 Fulani group, 580 FC g receptor IIa (CD32) Fulani of West Africa, 580 polymorphism, 580 Fuleihan, D.S., 387 Fcg RIIa-R/R131 genotype, 580 Fundus albipunctatus, 546 Female , 358 Fur, 576, 588, 592 Femoral-facial syndrome AD, 232, 364 Fertility, 641 Fertility rates, 4, 355–356 G Fever Gaalyeen, 583, 590, 595 familial lifelong, persistent, 190 Gaalyeen tribe, 590 persistent, 382 Gadarif state, 580 Index 753

Galactosemia, 240, 242, 448, 591, 656 Gerodermia osteodysplastica (GO), , 535 452, 664 Galactosyltransferase-I deficiency, 527 Gezira province, 580 Galloway–Mowat syndrome, 336 Gezira scheme, 580, 581 Gamma globin gene polymorphisms, 235 Ghanem, I., 379, 385, 401, 416, 417 GAPO syndrome, 249 Ghanem, N., 384, 387, 396 Garcia, C.K., 383, 412, 413 Ghayad, E., 379 Gastric sneezing, 182, 363 Gilbert syndrome, 382 Gastrointerstinal atresias, 445 GJB2 gene, 251 Gaucher disease, 240, 243, 449, 522, 535 Glanzmann’s thrombasthenia, 501, 590 Gaucher’s disease type I (AR), 365, 367, Glaucoma, 457–458, 501 382, 410 congenital, 382 Gaza, 14, 19, 20, 492 Global downturn, 45 GC/MS, 244 Glomerulonephritis, 114 GDAP1, 379, 401, 459, 463 Glucose-6- gene, 383 Geha, R., 384 Glucose-6-phosphate dehydrogenase Gene mapping, 708 (G6PD) alleles, 579 Generalised lipodystrophy, 184 Glucose-6-phosphate dehydrogenase Genetic counseling, 80, 81, 706–708 (G6PD) deficiency, 21, 238, 333, 359, carrier testing, 98–99 382, 397, 410–411, 448, 520, 537, 538, genetic counselors, 642 579, 587, 644, 646, 647 genetic education, 100 deficiency among Sudanese tribes, 588 medical termination of pregnancy, Iraq, 313–314 98, 99 mutations, 618 premarital counselling and screening, 98 severe phenotype, 618 training programs variant, 618 Sarah Lawrence College, 727 Glucose-6-phosphate dehydrogenase- Saudi Arabia, 727 deficient gene (G6PD), 588 Genetic disease Glutaric acidemia type I (GAI), 534, 535 autosomal recessive, 92, 94 Glutaric aciduria type II, 535 homozygosity, 92, 94 Glyceric aciduria, 534 Genetic disorders, 476–477, 677–698 Glycogenesis type 1 (Von Gierke’s of muscles, 227 disease), 591 Genetic diversity, 3–23 Glycogenosis, 503 Genetic eye disorders, 249 hepatic, 382 Genetic facilities, 222 Glycogen storage diseases (GSD), 243, 383, Genetic markers, 495–496 411, 448 Genetic services, 65–82 Fanconi–Bickel syndrome, 536 Genetic stigmatization, 707 phosphofrucokinase deficiency, 536 Genetic susceptibility to infectious phosphorylase b deficiency, 536 diseases, 578 type I, 536 , 77, 78, 81, 82, 709, 710, type III, 536 713, 720 , renal, 383 , 248–249, 339, GM1-gangliosidosis (AR), 365, 367, 535 450–451, 658 GLB1, 656 Genomic research, 706, 709–711 GM2 gangliosidosis, 243 Genomics, 709–710, 720 AB variant, 535 Genotype phenotype correlations, 250 Sandhoff disease, 534 754 Index

GMi gangliosidosis, 500 Health systems, 38, 40, 50–53 (GS), 231, 665 Health workforce, 38, 52, 61 Gorlin–Goltz syndrome AD, 364 , 502 Gout, 383 GJB2, 457 G6PD deficiency. See Glucose-6-phosphate Hearing loss, non-syndromic, 383 dehydrogenase (G6PD) deficiency Heart block, 411 Grebe-like chondrodysplasia, 186, 363, 502 Hechtman, P., 387, 422, 423 , 337, 548 Hematological disorders, 234, 359 G34R mutation, 246 , 254 Gross domestic product (GDP) growth, Hemoglobin 43, 47 HbO-Arabs, 498 Growth and volatility, 40 HbS, 498 Growth (GH) deficiency, 543 Hb Taybe, 498 insensitivity with Hemoglobin Beirut, 383 immunodeficiency (AR), 365 Hemoglobin C, Iraq, 312 Growth retardation, 649 Hemoglobin F, 584 Gulf Cooperation Council (GCC), 5, 517 Hemoglobin H (HbH) disease, 383, 411 Iraq, 312 H Hemoglobinopathies, 7–8, 496–498, Haddad, R., 382, 407 644, 645 Hajjar, E.T., 379 Hemoglobin S beta thalassemia, 235 Halabi, S., 393 Hemoglobin S/O Arab (Hb S/O-Arab), 586 Hallermann–Streiff syndrome, 254, Hemophilia, 464 365, 383 Hemophilia A, 238, 590 Hallervorden–Spatz syndrome, 244 Hemophilia B, 238 Hamad Medical Corporation (HMC), 517 Hennekam syndrome, 649 Hamitic, 576 Hennies, H.C., 380, 402 Haplotypes, 8, 12, 17, 237 Henoch–Schonlein purpura (HSP), 113 Hara, Y., 419 Hepatic fibrosis, 580, 581 Harboyan, G., 380 Hepatitis B surface antigen (HBsAg), 586 Harfouche, J.K., 393 Hepatitis B virus (HBV), 586 Hartnup’s disease, 590 Hereditary ataxias, 226, 599 Hawazma, 577, 583, 588 Hereditary 1,25-dihydroxyvitamin HbAA, 585 D3-resistant rickets, 544 HbAA individuals, 579 Hereditary emochromatosis gene, 548 HbAS, 579, 585 Hereditary fructosuria, 591 Hb Khartoum, 587 Hereditary hemorrhagic telangiectasia, 539 Hb Khartoum/g thalassemia, 587 Hereditary motor and sensory neuropathy HbS, 579 (HMSN), 540 Hb S/beta-thalassemia, 235 Hereditary multiple exostoses type I HbS þ O, 587 EXT1, 627 HbSS, 584, 585 newly identified mutation, 627 Health care inequalities, 50 novel frame-shift deletion, 627 Healthcare system(s), 65–67, 69, 82 Hereditary pyropoikilocytosis, 539 Health expenditures, 40, 50–53 Hereditary sensory and motor neuropathy, Health risk factors, 65–82 446, 447 Health service(s), 65, 66, 69, 71, 75–78, 82 Hereditary spastic paraplegia, 447, 541 Index 755

Hereditary , 242 low-density lipoprotein receptor, Herman, R.H., 382 Lebanese variant, 383, 412 Hexosaminidase A deficiency, 243 Hyperekplexia, 330 Hexosaminidase B deficiency, 243 , 413, 416 H/H131 genotype, 580 Hyperimmunoglobulinemia D with periodic Hirbli, K.I., 381 fever syndrome, 130 Hirschprung’s disease, 504 Hyperinsulinism and Historical background, 219–222 (HI/HA) syndrome, 522, 536 Hitti, P.K., 391, 392 Hyperlipoproteinemia, Type I, 383, 413 HLA-B*27 new allele, 383 Hyperornithinemia–hyperammonemia– HLA. See Human leukocyte antigen homocitrullinuria (HHH) syndrome, 535 Hochberg, Z., 386, 418 Hyperoxaluria I, 383 Holt-Oram syndrome, 231, 504, 666 Hyperphenylalalinemia (HPA), 12–13, 241 (HCU), 13, 240, 251, 365, Hyperphosphatasia, 233 367, 383, 521–522, 535, 656 (AR), 240, 365 Homozygous HbSS, 583 , Homozygous SCD, 584 polysyndactyly syndrome, 363 Hospital-based data, 476 syndrome, 190, 363 HPA-1 platelet antigen, 383, 396 Hypertelorism–Teebi type AD, 182, 364 HSN2, 385, 416 brachycephalofrontonasal dysplasia, 363 Human cytogenetic project in , 506 Sudan, 602 Iraq, 316 Human leukocyte antigen (HLA), 336 Hyperthyroidism, 601 complex class I and II antigen, 383 Hypertrichosis, congenital anterior cervical, gene variability, 495 with peripheral sensory and motor markers, 383 neuropathy, 190 typing, 247 Hypertrophic , 247 Human life protection, 716 Hypertrophic synovitis, 527 Humeroradial syntosis with craniofacial Hypoadrenocorticism with anomalies, 190 hypoparathyroidism and moniliasis, 384 , 243 Hypogonadism, 502 Huntington disease-like neurodegenerative hypogonadotropic, and alopecia, 384, 414 disorder, 540 hypogonadotropic, and partial alopecia, Hurler’s and Hurler–Scheie syndromes 384, 413–414 (AR), 365, 367 primary and partial alopecia, 191, 363 Hurler’s syndrome, 243, 383, 591 Hypogonadotropic hypogonadism Hutchinson-Gilford alopecia, 203 syndrome, 452 MR, , and minor skeletal Hyaline body myopathy, 540 abnormalities, 203 Hydrocephalus (AR), 17, 221, 225, 365, obesity, MR, and skeletal anomalies, 364 383, 500–501, 507, 596 Hypohydrotic/anhydrotic ectodermal 4-Hydroxybutyric aciduria, 535 dysplasia, 466–467 21-Hydroxylase deficiency, 246, 397 Hypokalemic , 400 3-Hydroxy-3-methylglutaryl-coenzyme A Hypomagnesemia with hypercalciuria, 548 lyase deficiency, 535 Hypomelanosis of Ito(HI), 249 Hypercholesterolemia Hypoparathyroidism (XL), 366 autosomal recessive, 383, 412–413 , mental retardation and familial, 383, 412 , 191 756 Index

Hypophosphatemic rickets, 591 Incidence of DSD, 245 with hypocalciuria, 191 Incontinenta pigmenti X-linked Hypoplastic tibiae and postaxial dominant, 366 polysyndactyly (AD), 363, 364 India, 640 Hypospadias, 189–191 Indifference to pain (AR), 365 Hypothyroidism, 601 Inequity/Inequities, 66, 75, 76 congenital, 384 deaths, 223 Infantile metachromatic, 242 Infantile systemic hyalinosis, 544, 666 I Infant mortality rate(s), 4, 72, 73 Ichthyosiform erythroderma, 507 Infertility, 469 Ichthyosis congenita, 547 Iraq, 310–311 Ichthyosis, lamellar, 5, 384, 414 multitailed spermatozoa and excessive IDDM. See Insulin-dependent diabetes DNA, 190 mellitus (IDDM) Inflammatory linear verrucous epidermal Idiopathic hypogonadotropic (ILVEN) (AD), 364 hypogonadism, 543 Inherited metabolic disorders, 590 Idriss, Z.H., 378, 380, 383, 386, 403 Insensitivity to pain, congenital, with IDU A deficiency, 242 anhidrosis (AR), 365 IEM. See Inborn errors of metabolism Inspiration of the soul, 716 IFN–gR1 gene, 581 Institute of Endemic Diseases, 577, 582 IgA nephropathy, 120 Institute of Medicine (IOM), 66 IgG1 and IgG3 antibodies, 580 Insulin-dependent diabetes mellitus IgG subclass immune deficiency, 526 (IDDM), 247–248, 450 IgM nephropathy, 120 DQB1, 623 Illness HLA-DR, 623 hadiths, 737 multiplex families, 623 recitation of the Quran, 737 Insulin resistance leprechaunism-like visitation of the ill, 737 syndrome, 192 Imerslund-Gra¨sbeck syndrome, 384, 414 , beta-3, ITGB3, 383, 396 Immunized, 78 Interferon-g (IFN-g), 581 Immunodeficiency Interleukin-1, 384 hyper-IgM, 548 defective T-cell response to, 205 severe combined-1, 384 Interleukin-12 deficiency, 548 Immunoglobulin lambda, 384 Interleukin-4 (IL-4) gene, 580 Immunoglobulins (IgG, IgA and IgM), Interleukin-2 (IL-2) receptors, 579 585, 586 , multiple level, 191, 384 Immunoglobulins IGHA2*M1 and Intracranial calcificaton, 526 IGHA2*M2 alleles, 384, 396 Intrauterine growth retardation (IUGR), Impact of genetic diseases, 707 666, 667 Improved water, 76, 77 In vitro fertilization (IVF), 715, 719 Improved sanitation, 76, 77 IQ scores less than 94, 586 Inati, A., 420 , 640 Inborn errors of metabolism (IEM), 10–14, Iranian, 640 224, 240, 361–368, 448, 449, 502, 590, Irani-Hakime, N., 382, 408 655, 713 Iraq , 4, 6, 19, 22 geography and history, 297 coefficient, 222, 576, 577 health services, 299–300 Incidence, 224 Iraqi, 20, 21, 182, 192, 198, 199 Index 757

population, 298–299 Juvenile polyposis syndrome, 336 Islam, 4–6, 576, 705–711, 714, 718, 720 Islamic ethics, 706, 711–712 K Islamic Jurisprudence Council, 709–712, 717–719 Kabuki make up syndrome, 507 Islamic Jurists, 709, 714 Kala-azar (KA), 582 Islamic law, 6 Kallman syndrome, 339 Islamic medicine, 4 Kawahla, 598 Islamic Shariai’ha principles, 706, 709, 712, Kawahla tribe, 155 714–716, 719 KBG syndrome AD, 364 Islamic teachings, 706, 708, 712, 716, 720 Kearns–Sayre syndrome, 168 Islamic World League (Organization of Kenny–Caffey syndrome, type I (AR), 365 Islamic Countries), 709–712, 717, 719 Keratolysis exfoliative congenita, 195 Isolated ectopia lentis, 527 b-Ketothiolase, 656 Isolates, 5, 6, 11, 18 3-Ketothiolase deficiency, 535 , 448, 656 Ketotic hyperglycenemia, 240 IUGR. See Intrauterine growth retardation (AR), 365 I1234V mutation, 520 Khachadurian, A.K., 378, 381–383, 386, 408, 409, 412 Khachadurian, L.A., 383, 412 J Khaldi syndrome, 203 Jaatoul, N.Y., 385 Khartoum, 581, 584, 587, 588, 595, 598 Jabal marra, 577 Khartoum teaching hospital, 586, 588 Jabir B. Hayyan, 39 Khlat, M., 393 Jalili syndrome, 187 Khudr, A., 393 Jalkh, N., 382, 409 Kidd, D.D., 380 Jancar’s syndrome, 504 , 547 Jarjouhi, L., 384 Kindreds, 5, 11–13, 16, 18, 20, 21 Jarrah, A., 378 Klinefelter syndrome, 496 Jeck, N., 379 cytogenetic analysis, 619 Jejunal atresia, 192, 384 extra X chromosome, 619 Jervell and Lange-Nielsen syndrome Klippel–Feil syndrome, 221 2 (long-QT syndrome), 384, 414–415 Klippel–Trenaunay syndrome AD, 364 Jeune syndrome, 654 , 384 , 5, 8, 10, 14, 20–22 Kocher–Debre´–Se´me´laigne Johanson–Blizzard syndrome, 542 syndrome, 384 , 325–342 Kordofan, 586 Jordanian, 8, 10, 11, 20, 188, 191, 196, Krabbe disease, 500, 656 199–201, 378, 665 Krause–Kivlin syndrome, 504 Joubert’s syndrome (AR), 364, 542, 650, Kufor–Rakeb syndrome, 199, 330 651 Kuhl, W., 410 related disorders, 226 Kurban, A.K., 384, 387 Junctional epidermolysis bullosa (EB), Kurdi-Haidar, B., 382, 410, 411 599, 657 Kurds, 5, 10 Jurisprudence, 706, 709 Kuwait, 5–9, 11–17, 19–22, 645, 651 Juvenile hyaline fibromatosis, 249 Kuwaiti, 182, 183, 185–189, 191, 195, Juvenile hypothyroidism, 593 196, 198, 204 Juvenile , 548 Kuwaiti family, 149 758 Index

L Leukodystrophy, 243 Lacombe, A., 386, 418 Leukonychia, 186 Lactose intolerance, adult, 384 Leukonychia totalis and Lactose , 594 changes, 203 Lake Victoria region in Kenya, 583 Levodopa therapy, 598 Lalouel, J.M., 394 Levy, G.N., 378, 379, 395 Lambotte syndrome, 192 L-glyceric acidurias, 535 , 658 LGMD. See Limb-girdle muscular -a2 chain, 158, 160, 161, 167 dystrophy Langer mesomelic dysplasis, 655 L-2-Hydroxyglutaric aciduria, 535 LARGE gene, 160 Libya, 146, 148 Laron’s syndrome (AR), 366, 543 Benghazi, 444, 445, 448–450, 452 Larsen-like disorder, 668 genetic services, 445, 452 Larsen syndrome, 230, 253, 654 history, 443 Late onset cerebellar ataxia, 446 Libyan, 443–446, 448, 449, 451, 452 with retinal pigmentary degeneration Libyans (Temehu), 575 with autosomal dominant map, 444 inheritance, 447 population statistics, 444–448, 450, 451 Laurence–Moon syndrome (AR), 365 screening programs, 448 Laurier, V., 379, 399 Tripoli, 443–445, 448, 449, 452 Lawrence-Seip syndrome, 249 Life expectancy, 4 Lay beliefs, 733 Lightwood, R., 388 LDLR, CYS660TER, 383, 412 Limb and skeletal malformation clinic Leadership, 721 (LSMC), 233 Least-developed, 68, 79 Limb-girdle, 146 , 377–425, 663 Limb-girdle muscular dystrophy (LGMD), Lebanese, 8, 10, 11, 14, 20, 182, 184, 150, 331, 447 186–197, 199–203, 205, 377, 378, LGMD2C, 461 390–425, 653 Limb-girdle muscular dystrophy (LGMD) Leber congenital amaurosis, 332, 384, 1A, B, C, 152 458, 546 Limb-girdle muscular dystrophy (LGMD) Leber optic atrophy, 384 2A, B, 152 Lefe`vre, C., 384, 414 Limb-girdle muscular dystrophy 2B Lefranc, G., 393, 394 (LG-MD 2B), 154–155 Lehrman, M.A., 383, 412 Limb-girdle muscular dystrophy (LGMD) Leigh syndrome, 244 2I, 158 Leishmania donovani, 582 Limb-girdle muscular dystrophy type 2C Leishmaniasis, 578, 582 (LGMD2C), 155–158 Lentigines, 184, 384 Limb/pelvis-hypoplasia/aplasia syndrome Lenz microphthalmia syndrome, 251 (AR), 197, 363, 366, 502, 655 LEOPARD syndrome AD, 364 Limb reduction defects, 231 Leprechaunism, 381, 527, 664 LINE1-mediated deletion of, 229 Leprechaunism-like syndromes, 664 Linguistic groups, 586 Lethal chondrodystrophies, 367 Lipodystophy Lethal congenital contracture congenital, generalized, type 2, 384, 415 syndrome, 200 generalised with mental retardation and Leukemia inhibitory factor receptor deafness, 184 (LIFR), 166 Rajab type, 184 Index 759

Lipoid proteinosis, 251, 256, 384, 451, 549 Manic depressive illnes (XL), 366 , 526 Mannose-6-phosphate receptor recognition Loiselet, J., 384, 386, 393 defect, Lebanese type, 385, 415 Long QT syndrome, 546 Mansour, A.M., 380 Low density lipoprotein receptor (AD), 367 Mansour, I., 382, 409 Lowe syndrome, 250 Maple syrup urine disease (MSUD), 385, Lowry–Maclean syndrome (AD), 366 534, 535, 656 LPIN2, 128 Marden-Walker syndrome, 385 Lymphoproliferative responses to Marenostrin, 115 SPAg, 579 Marinesco–Sjogren syndrome (AR), 226, 365 Lysosomal disorders, 500 Market-maximized, 72 Lysosomal storage disorders, 242, 333, Market-minimized, 72 448–449, 503 Maroteaux–Lamy syndrome, 243, 367 Marriage, 5–7 Martin–Bell syndrome (XL), 366 M Masalit, 582 Masalit tribe, 583 multiple epiphyseal dysplasia, 667 MCADD. See medium chain acyl coenzye mutiple epiphyseal dysplasia and A dehydrogenase deficiency distinctive facies, 200 MCAs. See Major congenital anomalies Macrodactyly, 228 McLaren, D., 388 Macrosomia MD congenital type 1A (MDC1A, or microphthalmia and cleft lip/palate, 502 merosin-deficient (MD), 160 microphthalmia, lethal (AR), 192, Meckel–Gruber syndrome (AR), 226, 365, 363, 365 452, 542 Maghreb, 8, 9, 13, 16, 17 Meckel syndrome, 17, 358, 367, 385, Maghrebian countries, 151 500, 651 Magre´, J., 384, 415 MECP2 gene mutation, 244 Mahfouz, R.A.R., 378, 382, 398, 408 , 709–710, 721 Mahmud, J., 380 Medical practice, 706 Majdalani, E., 386 Medicine, 706, 709, 710 Majeed syndrome, 8, 128, 201, 337, 502 Mediterranean, 219, 377, 389, 392–394, Major congenital anomalies (MCAs), 396, 407–411, 420 361, 445 Mediterranean mutations, 241 Makhoul, N.J., 387, 421 Medium chain acyl coenzye A Malaria, 578 dehydrogenase deficiency Malaria antigens, 580 (MCADD), 244 Mal de , 659 Medlej-Hashim, M., 382, 409 Male idiopathic infertility, 247 Medlej, R., 388, 424 Male infertility, 357 MEFV, 114 Male , 19 Megalencephaly with dysmyelination, 192 Malformation, 494 Megalocornea/mental retardation syndrome Malformation syndromes, 17 (MMR2), 255 Malonic aciduria, 535 Me´garbane´, A., 378–382, 384, 385, 387, Malouf, J., 379 399–402, 405–407, 413, 416, 422 Malouf syndrome, 187, 379 Megarbane–Jalkh syndrome, 202 Mamo, J.G., 383 Me´garbane´ syndrome, 199, 385, 416 Managil area, 581 3-Mehylglutaconic aciduria, 535 760 Index

Meier–Gorlin, 545 brain calcification, developmental delay MENA, 44–48, 54 and small stature, 184 Mendelian disorders chorioretinopathy (AR), 365 Iraq, 304–306 hypogonadism syndrome, 192 Menetrier’s disease, 504 hypogonadotrophic hypogonadism, 364 Meningitis, 595, 596 intracranial calcification (AR), 365 Meningitis belt, 596 normal intelligence, 193, 363, 502 Mentally handicapped children, 595 osteodysplastic primordial dwarfism Mental retardation (MR), 224, 358, 366, type II, 653 496, 502, 593, 649, 650, 656 simplified gyral pattern, 183 Iraq, 308–309 with abnormal myelination and with optic atrophy, facial dysmorphism, arthrogryposis, 668 microcephaly and short stature, 200 and early lethality, 199 short stature, facial anomalies and joint Micromelic dwarfism, 655 dislocations, 199 Micromelic dysplasia, congenital with skeletal dysplasia, abducent palsy (XL), dislocation of radius, 193 366 , 246 spastic diplegia (XL), 366 Microphthalmia, 188, 251, 501, 665 Merosin, 160 with myopia and corectopia, 385 Mesangial sclerosis, 192 Microphthalmos, 385 Mesomelic dysplasia, upper limb, 385, 416 Micro syndrome, 254 Messeria, 583, 588 Middle East, 4, 21, 23, 640 Metabolic and molecular testing Migration of doctors, 38 strategy, 521 Migration of health workers, 52 Metabolic bone disease, 591 Mikaelian, D.O., 381 Metabolic disorders, 644, 656 Mikati, M.A., 379, 385 Metachromatic leukodystrophy (MLD), Mikati syndrome, 192 243, 500 Mild mutations, 235 ASA-deficient MLD, 540 Milk consumption, 594 SAP-B deficiency (SAPBD), 540 Mishalany, H.G., 381, 384 , 192 Mitchell, G.A., 385 Metaphyseal Spahr-type dysplasia, 385 Mitochondrial abnormalities, 227 3-Methylcrotonyl-CoA carboxylase Mitochondrial disorders, 244, 448, 503, 536 deficiency, 535 cytochrome c oxidase deficiency, 536 Methylenene tetrahydrofolate reductase MELAS, 536 (MTHFR), 385, 413, 416, 535 Mitochondrial hepatopathy, 244 Iraq, 314 Mitochondrial myopathies, 168 polymorphisms, 383, 413 Mitomycin C (MMC), 237 3-Methylglutaconic aciduria, 534 Mitonchondrial encephalomyopathy lactic (MMA), acidosis and stroke-like episodes 448, 534 (MELAS), 169 Mevalonate kinase, 130 Miyoshi myopathy (MM), 154 Mevalonic aciduria, 656 M-line protein complex, 168 Microcencephaly with simplified gyral M-line titin, 601 pattern with abnormal myelination and Mnaymneh, W.A., 387 arthrogryposis, 203 Modifer gene, 125 Microcephaly, 17, 200, 225, 330, 367, Moebius’s syndrome AD, 364 650, 651 Molecular characterization, 243 Index 761

Molecular studies, 227 Multiplex PCR, 162, 163 Monogenic disorders, 223 Mummy, 281–284, 287, 291 Monotheistic culture, 705 Mumtaz, G., 402 Moroccan Human Mutation Database, 456 Murcs association, 233 mutations, 459–461 Musallam, S., 378 Morocco, 7, 9, 150 Muscle specific kinase (MUSK) consanguinity, 456 mutation, 598 ethnic groups, 455 Muscular dystrophies (MDs), 8–9, 22, genetic services, 456 145–163, 446, 447 inhabitants, 455 autosomal, 620 Morquio’s disease, 243, 591 consanguineous families, 620 Mortality, 38, 46–49, 58–60 families, 619 Mossman, J., 383, 387 fukutin-related protein gene Motherhood surrogacy, 715 (FKRP), 619 Motor disease, 446 heterogeneous, 619 Mowat–Wilson syndrome, 650 Muslims, 390, 392, 403–405, 408, 409, MPS type 1, 449 416–421, 575, 576 MPS type II, 449 Mustapha, M., 380, 383, 404, 405 MR, 203 Mutation analysis, 120 mtDNA, 170 Mutation detection, 235 mtDNA-encoded cytochrome c oxidase Myelomeningocele, 504, 597 (COX) genes, 170 Myofibrillar myopathies, 166, 527 MTHFR. See Methylenene tetrahydrofolate Myopathy(ies), 8–9, 22 reductase early-onset, with fatal cardiomyopathy MTM1 gene, 166 (EOMFC, MIM 611705, Salih Muckle–Wells syndrome, 131 Myopathy), 167–168, 201 , 500 , 146, 331 Mucolipidosis type II, 367 Myotonic dystrophy 1, 661 (MPS), 242, Myotubulation, 166 465–466, 500, 591 Maroteaux–Lamy syndrome, 534 Morquio disease, 534 N Mudawwar, F., 384 Nablus mask-like facial syndrome, 184, 504 Mufarrij, I.S., 380 Nabulsi, M.M., 403 Mu¨llerian structures, 385 Nachman, H.S., 384 Multiple-acyl-CoA dehydrogenase Naffah, J., 377, 380, 381, 385, 387, 393, deficiency (MADD), 590 394, 406, 408, 409 Multiple congenital anomalies, MR, and -patella-like renal disease, 193 happy nature, 203 Najjar, F.B., 380, 384, 386 Multiple endocrine neoplasia Najjar, S.S., 378, 379, 381, 384, 386, 387, type 1 (MEN 1), 544 414, 415 type 2, 468 Najjar syndrome, 187, 379 Multiple intestinal atresia (AR), 365 Nasopharyngeal carcinoma Multiple pterygium syndrome, 230, direct sequencing, 630 367, 666 familial and sporadic, 630 Multiple sclerosis, 506 human leukocyte antigen (HLA) Multiple sulfatases deficiency (AR), haplotypes, 630 366, 367 Nasr, F., 387 762 Index

NAT1 genotypes, 385, 395 Neuropathy National strategies for the prevention and giant axonal, Tunisian form, 193 management hereditary sensory and autonomic, 416 definition, 487 Neuroskeletal handicap, 595 genetic and ethics, 487 Neutrophilic dermatitis, 201 genetic and genomic research, 487 New bone dysplasia, 254 geneticdiagnosticlaboratoryservices,487 New born screening (NBS), 65, 76–78, medical education, 487 81–82 Natural resistance-associated macrophage New genetic syndromes, 502–504 protein-1 (NRAMP1), 582 New syndromes, 9, 10, 21, 22, 600 Naxos disease, 547 Newton, F.H., 384 NDH syndrome, 183 New type of EB simplex, 599 Neonata , 251 Nezarati, M.M., 387, 422 Neonatal death Niemann–Pick disease, 500, 534 congenital anomalies, 74, 76 type A (AR), 365 other causes, 75 type B, 367 preterm births, 74 Nigeria, 583 Neonatal , 587 Night blindness and myopia, 385 Neonatal mortality rate/s, 72, 73 Niikawa-Kuroki syndrome, 507 Neonatal-onset multisystem inflammatory Nile Delta, 235 disease, 131 Nile valley, 575 Neonatal screening program, 241, 518, Nilo-Hamitics, 576 714, 721 Nilo-Hamitic tribes, 583 Nephrogenic diabetes insipidus (NDI), 548 Nilotes, 576, 594 Nephrosis, minimal change, 364 Nilotic Baria, 582 Nephrotic syndrome, 548 Nilotic Nuer, 582 early onset with diffuse mesangial NK2, drosophila, homolog of, 6; NKX2-6 sclerosis, 193 (AR), 367 minimal change, X-linked, 205 Nodulosis Osteolysis, Arthropathy (NOA) Nesidioblastosis, 502 syndrome, 194 Nesidioblastosis of (NP), 16 Noncompaction cardiomyopathy, 527 , 547 Non-disjunction (AR), 19, 365 Neu–Laxova syndrome, 249 Non-Herlitz junctional epidermolysis Neumann, L.M., 381, 406 bullosa, 657 defects (NTDs), 225, 358, Noninsulin-dependent diabetes mellitus 446, 506, 596, 597 (NIDDM) Neurogenetic disorders, 446, 595 familial aggregation, 624 Neurolipidosis, 243 health problem, 624 Neurological disorders, 329–331 susceptibility gene, 624 Neuromigrational disorders, 329 Nonketotic hyperglycinemia (AR), 365, Neuromuscular disorders, 145, 597 367, 535 Neuronal ceroid lipofuscinosis (NCL), 534 Nonketotic , 244, 448 CLN1, 541 Nonsyndromal anencephaly (AR), 364 CLN2, 541 Non-syndromic autosomal recessive CLN6, 541 deafness, 647 CLN7, 541 Non syndromic congenital deafness Neuronal lipofuscinosis, 242 consanguineous, 626 Neuronal migration disorders, 225 DFNB1, 626 Index 763

inbreeding, 626 Nuba, 576, 582, 583, 588 linkage analysis, 626 Nubians, 5, 7, 583, 594 novel locus, 626 Nuba mountains, 576, 583, 588 Non-syndromic deafness, 18 Number of clinics, 80 Non syndromic microphthalmia/ Nurses’ density, 70 anophthalmia, 520, 523, 524 Nutritional problems, 5 Noonan’s syndrome (AD), 253, 364, Nystagmus, 384 666, 668 congenital, 385 , 250, 546 North Africa, 4, 8, 12, 13, 597, 640 Northern Nigeria, 588 O Northern province of Sudan, 599 Obesity, 254, 338 Northern Sudan, 595, 598 Occulodentoosseous dysplasia, recessive, Northwestern Africa, 153 193, 385 Novel deletion of PINK1 exons 4–8, 598 Oculomotor apraxia, 599 Novel early-onset myopathy with fatal Oculotrichodysplasia, 250 cardiomyopathy, 597 Odontoonychodermal dysplasia, 194, Novel mutation, p.A217D, 598 385, 417 Novel mutations, 246, 250, 253 Oil and natural resources, 38, 40 Novel phenotypes and variants, and novel Oil prices, WTI, 38, 45, 54 genotypes Oldenburg, J., 424 allopecia universalis congenita, 486 Oman, 165, 166, 578, 588, 639, 640, 646, Bardet–Biedl syndrome, 486 651, 652, 666 brain calcifications, 485 Omanis, 183–185, 189, 194, 204, 578, cohen syndrome, 486 640, 653, 655, 658 congenital generalized Oman population lipodystrophy, 484 family size, 473 congenital generalized lipodystrophy growth rate, 473 with deafness, 484 yearly growth, 473 Escobar variant, new form, 485 Omdurman, 596 geroderma osteodysplastica, 486 Omenn syndrome, 253 grebe acromesomelic dysplasia, 486 Oppenheim, A., 412 hemophagocytic Lymphohistiocytosis Opthalmoplegia-plus, 447 type 1, 486 Optic atrophy, 399, 417, 424, 501 hypopituitarism, 486 congenital, 385 microcephaly, lethal form, 484 Optic nerve coloboma, 668 paroxysmal nonkinesigenic Organic acidemias, 13, 240, 367, 503 dyskinesia, 487 Organization of Islamic Countries, 718 pontocerebellar hypoplasia, 485 Organization of Islamic Conference Scwartz–Jampel syndrome, 486 (OIC), 705 spastic cerebral palsy, autosomal Oris, 249 recessive form, 485 Ornithine aminotransferase deficiency, 385 , 487 Orofaciodigital syndrome, 253 spondyloepiphyseal dysplasia, 485 Osseous dysplasia, 385, 417 three M syndrome, 486 , 18–19, 652 wrinkly skin syndrome, 486 , 221, 279, 545, 592 Novel syndromes, 254 (AR), 233, 365, 385, NTDs. See Neural tube defects 417–418, 504, 655 764 Index

carbonic anhydrase II (CA II) Peeling skin syndrome (AR), 366 deficiency, 545 Pelizaeus–Merzbacher-like disease malignant osteopetrosis, 545 (PMLD), 242, 540 (AR), 365 -like skin rash, 600 severe autosomal recessive, 367 Pellagra-like syndrome, 194 syndromes, 16 Pendred’s syndrome (MIM No. 274600), -pseudoglioma syndrome 593 (AR), 366 Pentosuria, essential, 386 Osteoporosis-pseudoglioma with congenital Pericenrtrin 2 mutation () heart disease, a variant, 194 (AR), 367 OTOF gene, 404 Peripheral neuropathy, 599 Otopalatodigital syndrome, 253 Periportal fibrosis (PPF), 580 Outcome and process indicators, 76 Perlecan (HSPG2), 165 Ovarian failure, premature, 386, 418 Peroxisomal disorders, 244, 503 Ovum, 715, 719 hyperpipecolic acidemia, 536 rhizomelic chondrodysplasia punctata type II, 536 P X-linked adrenoleukodystrophy, 536 1p22, 582 , 536 PAH mutations, 241 Persians, 4, 640 Pakistan, 640 Persistent hyperinsulinaemic hypoglycemia Pakistani, 653 of infancy (PHHI), 543 Palestine, 657 Persistent hyperinsulinemic Palestinians, 7, 8, 10–20, 166, 184–197, hypoglycemia, 16 199–205, 391, 392, 419, 491–508, 651, Persistent mullerian duct syndrome 661, 664 (AR), 366 Pallidopyramidal degeneration, 199 Persistent primary vitreous, 251 AD, 364 Peters plus like syndrome, 667 epidermolytic, 364 Peters plus syndrome, 526, 527 epidermolytic recessive form 2 Kuwaiti Petro-dollar surpluses, 44 144200*, 363 Peutz–Jeghers syndrome, 386 Pancytopenia with multiple congenital P. falciparum antigens (SPAg), 579 anomalies, 203 P. falciparum infections, 580 Papillon–Lefe`vre syndrome, 249, 333, 549 , 233 Parasite neutralizing immune mechanisms, Pharmaceutical market issues, 54 580 Pharmaceutical trade, 54, 55 Parathyroid carcinoma, familial, 386 (PKU), 12–13, 240–241, Parental consanguinity, 222, 242, 249, 254 333, 366, 367, 386, 448, 449, 590, PARK 6, 598 642, 656 Parkinson’s disease (PD), 507, 542, 598 hyperphenylalaninemias, 499 genetically heterogenous, 621 incidence, 499 genetic characteristics, 621 inherited , 623 neurodegenerative disease, 621 mutations, 499 Parkman, R., 388 6-pyruvoyl tetrahydropterin Partial androgen insensitivity, 247 synthase, 535 Paupe, V., 406 Phenyl thiocarbamide (PTC) nontasters, 592 Paw, B.H., 423 Phenylthiocarbamide (PTC) taste Pediatric service, 377 response, 592 Index 765

Phocomelia and ipsilateral asymetric crying screening/counseling, 522, 526 , 255 testing, 642 Phosphorylase kinase deficiency of liver and Prenatal diagnosis, 80, 235, 328, 642, 643, muscle, 195 707, 708, 714, 715, 717, 720 Photography Prenatal loss, 223 cultural attitudes, 736 Prepregnancy genetic screening, 712–713 medical photography, 736 Prevalence, 86–91, 93, 95, 96, 100 women, 736 falciparum malaria, 585 Physical growth, 585 Prevention, 705–721 Physicians’ density, 70 PRICKLE1, 331 (AD), 364 Primary adhalinopathy Pilot, 65, 81 (a-sarcoglycanopathy, LGMD2D), PINK1 gene mutation, 598 156–157 Pipkin, A.C., 384 Primary congenital glaucoma (PCG), 250, Pipkin, S.B., 384 545, 546 PKU. See Phenylketonuria Primary resistance, 544 Placental blood, 719 Primary hypomagnesemia (AR), 365 Plasminogen activator inhibitor-1, 386, 418 Primary lateral sclerosis, 541 Plasmodium falciparum, 579 Primary lateral sclerosis, juvenile (AR), 367 (AD), 231, 364 Primary prevention strategies, 712–713 Polycystic , 548 Primordial dwarfism Polygamy, 5 osteodysplastic variant, 542 Polymorphism, 495–496, 580 Private expenditure on health, 71, 72 IFN-receptor, 582 Progeriod syndromes, 662 Pompe disease, 656 generalized lipodystrophy of seip, 663 Pontocerebellar hypoplasia type 3, neonatal progeria (Wiedemann– PCH3, 183 Rautenstrauch syndrome), 663 Popliteal pterygium syndrome, 253 Progressive external ophthalmoplegia Population, 219, 353–354 (PEO), 169 Population aging, 48–49 Progressive motor and mental Population genetics, 577 retardation, 243 Population genetic screening programs, Progressive myoclonus epilepsies, 331 711–712 Progressive pseudorheumatoid Population-screening, 65 arthropathy, 544 Population stratification, 100 Progressive pseudorheumatoid arthropathy punctata palmaris and of childhood (AR), 364 plantaris, 185, 547 Prolidase deficiency, 386 Porphyria, congenital erythropoietic, 386 Propionic acidmeia (PA), 448, 533, 534, 656 Post-KA dermal leishmaniasis (PKDL), 582 Prostate cancer Prader-Willi syndrome (PW), 254, 666 aggressiveness, 628 Pras, E., 409 angiogenic gene, 628 Preembryo, 715 combined effect, 628 Preferred types, 86–89 multifactorial, 628 Preimplantation diagnosis, 714, 715 onset, 628 Preim-plantation genetic diagnosis, 80, 328 Protein C deficiency, 507, 539 Premarital, 706, 712–713, 720 Protracted febrile myalgia, 116 examinations, 328 Prune belly syndrome, 386 genetic counseling, 642 Pseudocholinesterase deficiency, 386 766 Index

Pseudodominant inheritance, 229 X-linked disorders, 520 Pseudohermaphroditism, 386, 418, 501 2q31.1–q31.3, 168 Pseudohypoparthyroidism, 251 Quasidominant inheritance, 231 Pseudo-TORCH syndrome, 198 Queen of Punt, 291–292 Pseudotrisomy 13 syndrome, 194 Quran, 705, 706, 714, 720 , 386 , 248 R Psoriasis vulgaris, 552 Rahad river, 582 PSTPIP1, 131 Raine syndrome, 653 Psychoses, affective, 386 Rambam–Hasharon syndrome, 195 Psychosocial impact of SCD, 586 Rapid progressive glomerulonephritis, 120 PTEW-induced putative kinase 1 Rare cortical malformations, 226 (PINK1), 598 Rare disorders, 226 p53 Tumor suppressor gene, 600 Rawashda tribe, 581 Public health , challenges RB1 gene, 250 cultural background, 487 Red blood cell abnormalities, 578 definition, 487 Red cell genes, 578 healthy child, 487 Red cell genetic disorders, 583 legal system, 487 Red sea, 575 social circumstances and religious Red sea hills (Hamitic), 588 beliefs, 487 5-a-Reductase SRD52 deficiency, 386 Public health service, 65, 82 Reduction defects, 228 Pulmonary alveolar microlithiasis, 335 Refsum disease, 243 Punctata, 251 Regional conflict, 61 Pyogenic arthritis, 131 Registry, 642 Pyrin, 115 Reifenstein’s syndrome (XL), 366 Pyroglutamic aciduria, 535 Reimann, H.A., 382, 408 Pyruvate kinase deficiency, 333, 507 Religion Christianity, 89 Q grief, 733 6q27, 582 illness, 733 17q21, 157 Islam, 89 Qatanani, M., 387, 421 Renal and urinary tract anomalies, 386 Qatar, 7, 9, 11, 13, 15, 17–20, 22, 148, with chromosome aberrations, 386 639, 664 Renal-colobomaarthrogrposis syndrome, 185 autosomal dominant disorders, 519 Renal disease, 119 autosomal recessive disorders, 520 Renal tubular acidosis distal, 201 chromosomal disorders, 518–519 Renal tubular insufficiency, 379 consanguinity, 518 Renpenning’s syndrome (XL), 366 endocrine disorders, 525 Reproductive health genetic disorders, 518–520 abortion, 93 genetic services, 517–518 fertility, 92 geography and history, 515–517 miscarriage, 93 hemoglobinopathies, 525–526 stillbirth, 93 inborn errors of metabolism, 521 Reproductive options, 714–717 map, 516 Research, 706, 709–711, 715, 717–720 multifactorial birth defects, 519 Resistant to falciparum malaria, 579 population statistics, 517 Resources, 65–82 Index 767

Restrictive dermatopathy (RD), 659 Sanfilippo disease type B, 387 Reticulosis, familial, histiocytic, 386 Sanjad–Sakati syndrome, 16, 191, 254, Retinal, 501 549, 649 (RP), 199, 201, 250, San philippo syndrome, 243 386, 423, 458, 507, 546, 665 Santavouri CMD, 159 Retinoblastoma, 250, 386 Saouda, M., 388, 423 Retinopathy, 667 a-Sarcoglycan, 152, 154 Rett’s syndrome (XL), 244, 366, 541 a-Sarcoglycan (adhalin), 156 or retinopathy, 195 b-Sarcoglycan, 156 Rhabdomyolysis, acute recurrent (AR), Sarcoglycan complex, 597 195, 366 b-Sarcoglycan deletion, 597 Rheumatic heart disease (RHD), 253 a-Sarcoglycan gene, 156 Rhizomelic chondrodystrophia, 251 b-Sarcoglycan gene, 157 Rhizomelic dysplasia, 201 b-Sarcoglycan gene mutation, 147 Rhizomelic syndrome, 195 a-, b-, g-, d-Sarcoglycan genes, 597 Ribosomal RNA, mitochondrial, 12S, 205 b-Sarcoglycanopathy (LGMD2E), 157–158 Rickets-alopecia, 233 d-Sarcoglycans, 156 Rivie`re, J.-B., 385, 416 Sarcoglyconopathies, 152 Roberts syndrome, 231, 504 Saudi Arabia, 6–9, 11–17, 19, 21, 22, 146, Robinow syndrome, 504, 545, 548 164, 165, 575, 579, 595, 599, 639, 656 autosomal recessive, 366 Saudi Arabian, 183, 185, 190–192, 194, Roman Egypt, 222 198, 201, 203, 205 ROR2 mutation, 232 Sayad, R., 382, 407 Ro¨ssler, J., 384, 414 SCA. See Sickle cell anemia Rubinstein-Taybi syndrome, 232, 233 Scalp--nipple like syndrome, 204, 668 Rural-urban migration, 40 Scalp hair abnormalities, 202 Russell-silver syndrome, 666 SCARMD in Saudis, Syrians, and Rutland, J., 380 Yemenis, 153 R1226X mutation, 599 SCARMD. See Severe childhood autosomal recessive muscular dystrophy Scheie syndrome, 243 S Schimke immun-osseous dysplasia, 548 Saab, Y.B., 395 Schistosoma mansoni, 580, 581 Sabbagh, A.S., 378, 382, 383, 395, 396, Schistosomiasis, 578, 580 409, 413 Schneckenbecken dysplasia, 655 Saethre-Chotzen syndrome, 666 School performance, 585 Sahel, 586 Schools of jurisprudence, 702, 709 Salam, M., 383, 386 Schulze-Bahr, E., 384, 415 Salem, G.M., 384, 386 Schwabe, A.D., 408, 409 Salem, Z., 384, 414 Schwartz–Jampel syndrome (SJS), Salih myopathy, 168, 201, 597, 601 163–166, 231 , 244 Scoliosis, 201, 202 Salmonella osteomyelitis, 584 SC phocomelia syndrome, 387 Salti, I.S., 380, 384, 388, 414 Screening programs, 240 Samaha, H., 395 Seckel syndrome, 542, 652 Sand flies, 582 Secondary prevention strategies, 713–714 Sandhoff disease, 243, 367, 387, 397, Second cousin, 86, 166, 223, 256, 300, 302, 418–419, 522 309, 355, 616, 643, 708, 713, 734 768 Index

Segregation and genetic linkage Sickle cell disease (SCD), 8, 359, 525, 526, analyses, 579 583, 585, 586, 645, 646 Seizures, 243, 649 in Khartoum, 585 Selective, 65, 66, 80 sickle cell anemia, 642 Semitic, 3, 491 Sickle cell thalassemia, 587 Semitism, 492 Sickle-cell trait, 387, 419, 583 Senataxin (SETX) gene, 599 autosomal Senegal haplotypes, 586 recessive, 195 Sensorineural, 251 Signal transducer and activator of deafness, 199, 549 transcription 5B, STAT5B (AR), 367 Septooptic dysplasia, 544 Sille´n, A., 387, 422 Serre, J.L., 383, 394 Silver–Russel syndrome, 253 Setleis syndrome, 664 Single gene defects, 477–487 Severe childhood autosomal recessive Single polymorphisms, 581 muscular dystrophy (SCARMD) AR, Sjo¨gren–Larsson syndrome, 248, 387, 422 146–154, 156, 157, 162, 365, 539, 597 SJS. See Schwartz–Jampel syndrome Severe childhood muscular dystrophy, 527 SJS type 1A, 165 Severe hypertelorism, 201 SJS type 1B, 165 Severe mutations, 235 SJS type 2, 165 Sex reversal, 496 Skeletal and limb malformations, 228 Sex-revesed cases, 247 Skeletal dysplasia, rhizomelic, with retinitis S gene, 586 pigmentosa, 200 Shahid, M.J., 382, 383, 387, 420 Skeletal dysplasias, 292, 592 Shaigia, 583, 590, 595 Skin peeling, familial continuous, 195 Shammaa, D.M.R., 386, 418 SMA. See Spinal muscular atrophy Shammas, H.F., 381 Smith–Lemli–Opitz syndrome, 387, 422 Shamseddine, A., 382, 410 Smith–McCort dysplasia, 229 Shariai’a, 706 Socioeconomic correlates, 90–91 Shariai’ha principles, 716, 718, 720 Sohar, E., 409 Shawaf, S., 382, 406 Solh, H., 386 Sheldon syndrome, 230 Somalis, 577, 578 Shi’ite, 5 Somatic cell nuclear transfer (SCNT), 718 Sohat, M., 409 Somatic gene therapy (SGT), 719–720 Short rib-polydactyly syndromes, 545 Somerville, I., 381 Short-rib-polydactyly type III, 655 AD, 364, 543 Short stature and facioauriculothoracic Soua, Z., 384, 396 malformations, 201 Souraty, N., 385, 417, 418 Short stature, Iraq, 317 Soussou, I., 378 SHORT Syndrome, 663 Southern Nilotes, 583 Sialic acid storage, 244 Southern Sudan, 582 type 1, 535 Sovereign wealth funds (SWFs), 38, 45 Sialuria, 242 Spahr metaphyseal chondrodyslasia Sickle cell anemia (SCA), 221, 237–238, (AR), 365 366, 367, 448, 533, 537, 538, 579, 583, Spastic ataxia syndrome 586, 716, 720, 721 Bedouin type, 196 Iraq, 313 Bedouin type 2, 204 Sickle cell/b O thalassaemia (S-b0 thal), 583 Spastic cerebral palsy with microcephaly Sickle-cell/bþ thalassemia (S-bþ thal), 583 and mental retardation, 204 Index 769

Spastic paraparesis, 196 Ste´phan, E., 379, 411 Spastic paraplegia, 331, 502 Sterilization, 714 Spastic paraplegia 26 (AR), 367 Steroidogenic acute regulatory protein Spastic paraplegia 20, autosomal recessive (AR), 366 (Troyer’s syndrome), 366 resistant nephrotic syndrome, 253 Spastic paraplegia-5B autosomal Strahler, J.R., 383, 420 recessive, 198 Sturge–Weber syndrome (AD), 364 Spina bifida, 221, 446 Stuve–Wiedemann (SJS type 2) Spinal muscular atrophy (SMA), 227, 228, syndrome, 166 447, 462–463, 502, 539, 660 Stuve–Wiedemann syndrome (SWS), autosomal recessive neuromuscular 652, 662 disorders, 620 Sudan, 7, 9, 146, 153, 575, 578, 580–584, mutation or deletion, 620 586, 591, 592, 598 SMN gene, 620 Sudanese, 189, 194, 195, 200, 201, 577, Type I (AR), 365 578, 586 Type II (AR), 365 Sudanese family, 147, 591 Spinal muscular atrophy/Werdnig– Sudanese kindred, 157 Hoffmann disease, 367 Sudan Ministry of Health, 579 , 226 Sulfa preparation, 588 autosomal recessive 5; SCAR5, 199 Sulfite oxidase deficiency, 536 with axonal neuropathy (SCAN1), 541 Sulh, H.M., 382 Spinocerebellar degeneration Sunna, 706, 716 and corneal dystrophy, 196, 387 Sunni, 4, 5 with slow eye movement (AR), 196, Supplementary, 65 363, 366 Susceptibility to human leishmaniasis, 582 Split /split foot, 507 Sustained growth, 44 autosomal recessive, 190 Sutherland, J.V., 386 Spondylitis, 387 Sweat chloride test, 252 Spondylocostal dysostosis, 233 Swedish population, 581 Spondyloepimetaphyseal dysplasia, 196, Symphalangism, 228 229, 387, 422 Symphalangism with multiple anomalies of Spondyloepimetaphyseal dysplasia, new and feet, 185 variant (AR), 363, 366 , 504 Spondyloepiphyseal dysplasia, 545 Syndesmodysplastic dwarfism, 196 Omani type, 183 Synspondylism, congenital, 387 Spondylometaepiphyseal dysplasia, 655 Syrian, 153, 655, 664 Spondylometaphyseal dysplasia, Algerian Systemic lupus erythematosus type, 185 case-control studies, 625 Spranger, J., 381, 406 deoxyribonuclease I (DNASE1), 625 Sprengel disease, 222 HLA, 625 Srouji, G., 386 MHC class II, 625 SRY, 245, 246 polymorphisms, 624 SSCP, 246 Stargardt disease, 546 Stargart , 387 T Stayoussef, M., 381, 405 Tabbara, K.F., 378, 379, 381–383, 385–388 research, 717–718 Taher, A., 382, 408 Stem cell therapy, 706, 719, 721 Takla, R., 382 770 Index

Taleb, N., 381, 382, 387, 406, 410, 420 Thyroglossal duct syndrome, 504 Tama-Messeria tribe, 581 Thyroid disease, 601 Tamim, H., 378, 398 Thyroid hormonogenesis (MIM Tamouza, R., 378, 398 No.274400), 593 Tandem mass spectrometry, 590 Tibia, hypoplasia of, with polydactyly, 185 TAR syndrome, 231 Tibial aplasia and ectrodactyly, 387 Tay-sachs disease (AR), 242, 243, 366, 507 Titin gene, 168 juvenile, 387, 422–423 Titinopathy, 540, 601 T-cell antigen receptor, gamma subunit, 387 TNF receptor associated periodic syndrome a-Tectorin, 405 (TRAPS), 126–127 Teebi, A.S., 378, 398 TNFRSF1A, 126 Teebi hypertolerism syndrome, 182 Tohme, A., 379 Teebi–Shaltout syndrome (AR), 196, 366, Tomb, R., 381, 406 520, 524 TORCH-like syndrome, 668 Teeth, 506 Torsion dystonia, 507 Temtamy preaxial brachydactyly syndrome, Total expenditure on health, 71, 72 232, 255 Traboulsi, E.I., 383–386, 388 Temtamy preaxial polydactyl Trans-African migrations, 575, 586 syndrome, 199 Transnational Alliance for Genetic Temtamy syndrome of ocular, 251 Counseling (TAGC), 727 Teratogens, 224 Transposition of external genitalia, 247 Termination of pregnancy, 6 Treacher Collins syndrome AD, 364 Testes, rudimentary, 196, 387 Tribal, 11, 13 Tetra-amelia with pulmonary Trigonobrachycephaly, 197, 363 hypoplasia, 197 syndrome, 502 Tetralogy of Fallot and pulmonary atresia, , 333 186, 387 Trioche, P., 382, 411 a-Thalassemia, 537, 538, 646 Trisomy 13, 356 haemoglobinopathies, 617 Trisomy 18, 357 Hb H disease, 538 Trisomy 21, 496 screening study, 617 Trop, I., 387, 423 b-Thalassemia, 533, 537, 644–646 True hermaphroditism (TH), 246, 593 mutational spectrum, 617 Tryptophan, 600 Thalassemias, 328, 359, 387, 397, 419–422, Tuberculin (PPD), 579 448, 463–464, 496, 587, 642, 643, 712, Tubulopathy, salt losing, 400 713, 717 Tumor necrosis factor-a (TNF-a), 581 antenatal diagnosis, 497 Tunisia, 146, 164, 165 frequency, 497 abortions, 614 genes, 579 Africa, 614 incidence, 497 Arab countries, 616 mutations, 497 consanguineous marriages, 613, 616 premarital thalassemia screening, 497 contraception, 614 , 655 cross roads of Europe, 614 Thauvin-Robinet, C., 406 cytogenetic analyses, 616 Therapy, 236 different Mediterranean civilizations, 614 Thiamine responsive megaloblastic DNA analyses, 616 anemia, 539 endogamy, 616 Thrombocytopenia, X-linked, 205 genetic counseling, 616, 631 Index 771

genetic diseases in Tunisians, 613 Usanga, E.A., 382, 411 genetic disorders, 613, 631 Usher syndrome (USH), 388, 423 genetic services, 616 consanguineous, 627 growth rate is about 1%, 614 heterogeneous, 627 history of genetic conditions, 616 novel gene, 627 major national health problem, 631 Uthman, S.M., 382, 383, 412 Middle East, 614 monogenic, 631 V mutational spectrum, 631 republic of, 615, 616 Vaccination, 78 smallest country of the North African van der Woode syndrome, 253 countries, 614 Vassoyan, J., 386 Tunisian, 9, 15–17, 188, 193, 196–198, Very long chain fatty acids, 244 202, 203 Vincenti, F., 387 Turks, 5, 10 Visceral leishmaniasis (VL), 582 , 387, 496, 602 Vitamin A metabolic defect, 197, 388 deletion of one chromosome X, 619 Vitamin D–dependent rickets (AR), 366 karyotyping, 619 Vitamin D-dependent rickets type II, 591 mosaicism, 619 Vitamin D resistant rickets, 233 Tyrosinemia, 448, 656 -dependent clotting factor, type I, 367, 449, 534, 535 388, 424 type II, 366, 535 , 198, 552 VL susceptibility gene on 22q12, 582 von Willebrand disease, 590 U VPS13B mutation, 380 UAE Bedouins, 661 Vulliamy, T.J., 410 Uganda, 581 Vulnerability to VL, 582 Ullrich CMD, 160 Vure, E., 407 Ulnar hypoplasia, 204 Ulnar-mammary syndrome, 231 Ultrasonography, 581, 643 W Ultrastructural changes, 243 Waardenburg recessive Umzukra, 581 microphthalmia, 388 Undelineated neurodegenerative brain Waardenburg–Shah syndrome, 658 disorders, 367 Waardenburg’s syndrome, 253, 507, 658 Under five mortality rate/s, 72 type 2, 451 Under-service, 67 Walker–Warburg syndrome (WWS), 159, United Arab Emirates (UAE), 7, 9, 15, 527, 542, 650 17–19, 22, 164, 166, 181, 577, 588, WAS, 548 639–645, 648, 651, 653, 657, 658, 664 Weaver-like syndrome (AR), 198, 363, 366 United Nations (UN), 68, 76 Weill–Marchesani syndrome, 388, 424, 544 University of Gezira, 580 Werding–Hoffmann disease (AR), 364, 597 University of Khartoum, 579, 580, 582, 590 Werner’s syndrome, 452 Unusual facies, 188 West African populations, 588 Upper Nile province, 582 West Bank, 492 defects, 448 Western Sudan, 576, 581, 582, 586 Urea cycle disorders, 503 White Nile, 580, 588 Urinary schistosomiasis, 600 Wiedemann syndrome (MIM 601559), 165 Urofacial syndrome (AR), 365 Wiles, C.R., 387 772 Index

Williams syndrome, 254, 666 X-linked lymphoproliferative Wilson’s disease (AR), 366, 367, 502, 548 disease, 548 Winchester–Torg syndrome, 233 X-linked mental retardations Wiskott–Aldrich syndrome, 388, 538 new locus, 627 Wolcott–Rallison syndrome, 527, 544 PAK3 gene splice mutation, 627 (DIDMOAD), 332, 338, X-linked myotubular myopathy, 166 388, 424, 544 X-linked recessive, 9 Wollcott–Rallison syndrome, 655 X-linked recessive ichthyosis, 658 Wolman’s disease, 507, 535 XVII collagen, 599 Woodhouse–Sakati syndrome, 190, 527 46 XX DSD, 245 Workforce, 67, 69, 77 XY , 200 World Health Organization (WHO), 66 Wrinkly skin syndrome, 367, 507, 547 Y W70X, 383, 411 Wynne-Davies, R., 398 Yasunaga, S., 380, 404 Y chromosome, 577, 602 Y-chromosome diversity, 392–393 Yehya, A., 411 X Yemen, 588, 639, 640, 652 Xanthinuria Baluchis, 641 hereditary, 388 Yemenis, 153, 166, 641, 664 Type I (AR), 366 Yq(11) microdeletion, 247 pigmentosa, 248 Yunis, K., 412 (XP), 17, 388, 450, 466 consanguineous marriage, 625 Z founder effect, 625 Zaatari, G.S., 382, 408 gene mutations, 625 Zahed, L., 378, 380, 387, 397, homozygous deletion, 625 420, 421 rare, 625 Zaire, 583 X-linked androgen insensitivity, 247 Zalloua, P.A., 392 X-linked conditions, 484 Zaynoun, S.T., 384 X-linked dyskeratosis congenita, 660 Zekian, B., 388 X-linked hypophosphataemic rickets, 544 Zirbel, G.M., 417