DOCSLIB.ORG

Aase–Smith Syndrome, 231 Abboud, M.R., 381 Abdallat Syndrome, 196

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text

Load more

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 disease Abu Bakr al-Razi, 39 Alzheimer disease, 97 Abu Feisal, K., 378 bipolar disease, 97 Abu Haydar, N., 387 cancers, 96, 97 Abyssinia, 575 diabetes mellitus, 96 Acanthosis negricans AD, 364 heart disease, 97 Acardi’s syndrome (XL), 366 schizophrenia, 97 ACE gene, 578 Advanced maternal age, 329 Achalasia-alacrimia syndrome, 186 Afghanistan, 640 Achondroplasia, 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 alleles, 243 Acromesomelic dysplasia, Maroteaux Agyria-pachygyria 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 chromosome, 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 Albinism, 249, 590 Angiotensin-converting enzyme (ACE) oculocutaneous, 397 gene, 577 Alexander, D.A., 382, 384, 390, 415 Ankylosing spondylitis, 397–398 Al-Gazali syndrome, 200, 667 Anophthalmia, 251 Algeria, 150 Antenatal care coverage, 78 Algerian, 185, 196, 198 Anterior hypopituitarism, 544 Alkalosis, hypokalemic, 378 Anthropometry Alkaptonuria, 378, 535, 590, 656 birth measurements, 93 Allele 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-mannosidosis, 243 Apert syndrome, 221 Alpha-one antitrypsin deficiency, 242 Apnea of prematurity, 398 5-Alpha-reductase deficiency, 245 ApoB-100 R3500Q mutation, 378 5-Alpha-reductase type2, 246 Apolipoprotein E, 398 Alpha thalassemias, 7, 8, 236, 364 Apple-peel syndrome AR, 365, 507 Iraq, 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 diseases, 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 Amino acid disorders, 590 world, 4, 5, 8, 10, 12, 14, 18, 21–23 Aminoacidopathies, 361, 503 Arabia, 575, 577, 597, 640, 647 Amniocentesis, 643 Arabian gulf, 4, 639, 640 Amyloidosis, 112 states, 584 Ancient Egypt, 221, 273–294 Arabian peninsula, 4, 9, 15, 16, 153, 645, 646 Anderson’s continuum, 72 Arabic language, 4 Androgen end organ non Arabs, 575, 590, 640–643, 649 responsiveness, 245 descent, 576, 583 Androgen receptor (testicular feminization 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 ichthyosis 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 keratoderma, 186 Arranged marriage, 85, 98, 99 gene, 247 Arrhythmias, 167 microcephaly, 652 Arterial tortuosity syndrome (ATS), 520, Robinow syndrome, 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 microphthalmia, 665 Arthropathy, progressive, Autosomal recessive cardiomyopathy 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 Aspirin, 588 Autosomal recessive cutis laxa (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 dermatitis, 248, 658 diseases, 481 Atrial septal defect with various cardiac and neuromuscular disorders, 480 noncardiac anomalies, 182 neuromuscular disorders, genetic Atrophic benign EB, 599 diseases, 481 Autoimmune thyroid diseases (AITDs) seizure disorders, 480 linkage analysis, 622 skeletal dysplasias and bone 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 mutations, 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 Bile 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 Bartter syndrome, 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 Blepharophimosis–ptosis–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 Blood 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 Camptodactyly, 188 Brachydactyly, 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 breast, 506, 551 BRCA1-ineracting protein 1; BRIP1 colorectal, 506 (AD), 367 diffuse large B-cell lymphoma Breast cancer, 467, 599, 600 (DLBCL),
Recommended publications
  • New CDH3 Mutation in the First Spanish Case of Hypotrichosis with Juvenile Macular Dystrophy, a Case Report

    New CDH3 Mutation in the First Spanish Case of Hypotrichosis with Juvenile Macular Dystrophy, a Case Report

    Blanco-Kelly et al. BMC Medical Genetics (2017) 18:1 DOI 10.1186/s12881-016-0364-5 CASEREPORT Open Access New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report Fiona Blanco-Kelly1,2, Luciana Rodrigues-Jacy da Silva1, Iker Sanchez-Navarro1, Rosa Riveiro-Alvarez1,2, Miguel Angel Lopez-Martinez1, Marta Corton1,2 and Carmen Ayuso1,2,3* Abstract Background: CDH3 on 16q22.1 is responsible for two rare autosomal recessive disorders with hypotrichosis and progressive macular dystrophy: Hypotrichosis with Juvenile Macular Dystrophy and Ectodermal Dysplasia, Ectrodactyly and Macular Dystrophy. We present a new case of Hypotrichosis with Juvenile Macular Dystrophy. Case presentation: A Spanish male born in 1998 from non-consanguineous healthy parents with a suspected diagnosis of Keratosis Follicularis Spinulosa Decalvans and Retinitis Pigmentosa Inversa referred to our Genetics Department (IIS-Fundación Jiménez Díaz). Molecular study of ABCA4 was performed, and a heterozygous missense p.Val2050Leu variant in ABCA4 was found. Clinical revision reclassified this patient as Hypotrichosis with Juvenile Macular Dystrophy. Therefore, further CDH3 sequencing was performed showing a novel maternal missense change p.Val205Met (probably pathogenic by in silico analysis), and a previously reported paternal frameshift c.830del;p.Gly277Alafs*20, thus supporting the clinical diagnosis.. Conclusions: This is not only the first Spanish case with this clinical and molecular diagnosis, but a new mutation has been described in CDH3. Moreover, this work reflects the importance of joint assessment of clinical signs and evaluation of pedigree for a correct genetic study approach and diagnostic. Keywords: Macular dystrophy, CDH3, Hypotrichosis, Syndromic retinal dystrophy, Case report Background Dysplasia, Ectrodactyly and Macular Dystrophy (EEM, The CDH3 gene, on16q22.1, encodes for P-cadherin, OMIM: 225280) [18].
  • Understanding Fraser Syndrome

    Understanding Fraser Syndrome

    SPECIAL NEEDS // Features Synonyms of Fraser Syndrome • Cryptophthalmos- Syndactyly Syndrome • Cryptophthalmos Syndrome • Cyclopism • Fraser-Francois Syndrome • Meyer-Schwickerath’s Syndrome • Ulrich-Feichtiger Syndrome Understanding Fraser Syndrome A look at how Fraser Syndrome – a rare, non- development of the kidney), skeletal larynx. Lack of kidney function or blockage treatment are often required for those # Ophanet, a consortium of European sex linked genetic disorder – causes anomalies and mental delay. of the larynx is usually the cause of death for surviving Fraser Syndrome-affected children. partners, currently defines a condition rare a wide range of abnormalities, those who are stillborn or die within the first Thanks to advances in genetic counselling when it affects one person per 2,000. particularly vision loss. Associated Symptoms year of infancy. technologies, medical professionals Due to multiple malformations of different 25% of affected infants are stillborn, nowadays find it more effective in carrying * A pattern of inheritance in which both body organs, a child with Fraser Syndrome while 20% die before the age of one out the diagnosis, prenatal treatment and copies of an autosomal gene must be Compilation: Leonard Lau and Yvonne Tan; Photo: stock.xchange is likely to suffer from at least partial visual, year from renal or laryngeal defects. If management of Fraser Syndrome. abnormal for a genetic condition or disease hearing or speech impairment, among other these anomalies are not present, the life Ultrasonographic diagnosis of the to occur. An autosomal gene is a gene A very rare# genetic disorder occurring in Syndrome (the syndrome has a recurrence symptoms. expectancy is almost normal.
  • Ectodermal Dysplasias: a New Clinical-Genetic Classification

    Ectodermal Dysplasias: a New Clinical-Genetic Classification

    J Med Genet 2001;38:579–585 579 Ectodermal dysplasias: a new clinical-genetic J Med Genet: first published as 10.1136/jmg.38.9.579 on 1 September 2001. Downloaded from classification Manuela Priolo, Carmelo Laganà Abstract many case reports and personal communica- The ectodermal dysplasias (EDs) are a tions in their listing of EDs, as well as large and complex nosological group of conditions traditionally classified under other diseases, first described by Thurnam in headings, for example dyskeratosis congenita11 1848. In the last 10 years more than 170 and keratitis-ichthyosis-deafness (KID) syn- diVerent pathological clinical conditions drome12 (poikiloderma and immune defect have been recognised and defined as EDs, diseases and erythrokeratodermas, respec- all sharing in common anomalies of the tively). Further, they did not appear to hair, teeth, nails, and sweat glands. Many consider variability of expression and may are associated with anomalies in other have reported, as distinct diseases, conditions organs and systems and, in some condi- that reflect variable expression of the same tions, with mental retardation. pathological entity. Moreover, they included The anomalies aVecting the epidermis pathological conditions which, in our opinion, and epidermal appendages are extremely do not strictly fulfil the diagnostic criteria for variable and clinical overlap is present EDs, such as conditions with secondary among the majority of EDs. Most EDs are involvement of epidermal derivatives rather defined by particular clinical signs (for than a primary defect. We abandoned the 1-2- example, eyelid adhesion in AEC syn- 3-4 designation of EDs, because we believe drome, ectrodactyly in EEC).
  • Thursday 23 June 2016 – Morning A2 GCE HUMAN BIOLOGY F225/01 Genetics, Control and Ageing *5884237032* Candidates Answer on the Question Paper

    Thursday 23 June 2016 – Morning A2 GCE HUMAN BIOLOGY F225/01 Genetics, Control and Ageing *5884237032* Candidates Answer on the Question Paper

    Oxford Cambridge and RSA Thursday 23 June 2016 – Morning A2 GCE HUMAN BIOLOGY F225/01 Genetics, Control and Ageing *5884237032* Candidates answer on the Question Paper. OCR supplied materials: Duration: 2 hours None Other materials required: • Electronic calculator • Ruler (cm/mm) *F22501* INSTRUCTIONS TO CANDIDATES • Write your name, centre number and candidate number in the boxes above. Please write clearly and in capital letters. • Use black ink. HB pencil may be used for graphs and diagrams only. • Answer all the questions. • Read each question carefully. Make sure you know what you have to do before starting your answer. • Write your answer to each question in the space provided. If additional space is required, you should use the lined page(s) at the end of this booklet. The question number(s) must be clearly shown. • Do not write in the bar codes. INFORMATION FOR CANDIDATES • The number of marks is given in brackets [ ] at the end of each question or part question. • The total number of marks for this paper is 100. • Where you see this icon you will be awarded marks for the quality of written communication in your answer. • You may use an electronic calculator. • You are advised to show all the steps in any calculations. • This document consists of 24 pages. Any blank pages are indicated. © OCR 2016 [K/500/8502] OCR is an exempt Charity DC (NH/SW) 119808/4 Turn over 2 Answer all the questions. 1 Excretion is the removal of metabolic waste products from the body. The kidney is one of the organs involved in excretion.
  • Prenatal Growth Restriction, Retinal Dystrophy, Diabetes Insipidus and White Matter Disease: Expanding the Spectrum of PRPS1-Related Disorders

    Prenatal Growth Restriction, Retinal Dystrophy, Diabetes Insipidus and White Matter Disease: Expanding the Spectrum of PRPS1-Related Disorders

    European Journal of Human Genetics (2015) 23, 310–316 & 2015 Macmillan Publishers Limited All rights reserved 1018-4813/15 www.nature.com/ejhg ARTICLE Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders Almundher Al-Maawali1,2, Lucie Dupuis1, Susan Blaser3, Elise Heon4, Mark Tarnopolsky5, Fathiya Al-Murshedi2, Christian R Marshall6,7, Tara Paton6,7, Stephen W Scherer6,7 for the FORGE Canada Consortium9, Jeroen Roelofsen8, Andre´ BP van Kuilenburg8 and Roberto Mendoza-Londono*,1 PRPS1 codes for the enzyme phosphoribosyl pyrophosphate synthetase-1 (PRS-1). The spectrum of PRPS1-related disorders associated with reduced activity includes Arts syndrome, Charcot–Marie–Tooth disease-5 (CMTX5) and X-linked non-syndromic sensorineural deafness (DFN2). We describe a novel phenotype associated with decreased PRS-1 function in two affected male siblings. Using whole exome and Sanger sequencing techniques, we identified a novel missense mutation in PRPS1. The clinical phenotype in our patients is characterized by high prenatal maternal a-fetoprotein, intrauterine growth restriction, dysmorphic facial features, severe intellectual disability and spastic quadraparesis. Additional phenotypic features include macular coloboma-like lesions with retinal dystrophy, severe short stature and diabetes insipidus. Exome sequencing of the two affected male siblings identified a shared putative pathogenic mutation c.586C4T p.(Arg196Trp) in the PRPS1 gene that was maternally inherited. Follow-up testing showed normal levels of hypoxanthine in urine samples and uric acid levels in blood serum. The PRS activity was significantly reduced in erythrocytes of the two patients. Nucleotide analysis in erythrocytes revealed abnormally low guanosine triphosphate and guanosine diphosphate.
  • EXTENDED CARRIER SCREENING Peace of Mind for Planned Pregnancies

    EXTENDED CARRIER SCREENING Peace of Mind for Planned Pregnancies

    Focusing on Personalised Medicine EXTENDED CARRIER SCREENING Peace of Mind for Planned Pregnancies Extended carrier screening is an important tool for prospective parents to help them determine their risk of having a child affected with a heritable disease. In many cases, parents aren’t aware they are carriers and have no family history due to the rarity of some diseases in the general population. What is covered by the screening? Genomics For Life offers a comprehensive Extended Carrier Screening test, providing prospective parents with the information they require when planning their pregnancy. Extended Carrier Screening has been shown to detect carriers who would not have been considered candidates for traditional risk- based screening. With a simple mouth swab collection, we are able to test for over 419 genes associated with inherited diseases, including Fragile X Syndrome, Cystic Fibrosis and Spinal Muscular Atrophy. The assay has been developed in conjunction with clinical molecular geneticists, and includes genes listed in the NIH Genetic Test Registry. For a list of genes and disorders covered, please see the reverse of this brochure. If your gene of interest is not covered on our Extended Carrier Screening panel, please contact our friendly team to assist you in finding a gene test panel that suits your needs. Why have Extended Carrier Screening? Extended Carrier Screening prior to pregnancy enables couples to learn about their reproductive risk and consider a complete range of reproductive options, including whether or not to become pregnant, whether to use advanced reproductive technologies, such as preimplantation genetic diagnosis, or to use donor gametes.
  • Abstracts from the 9Th Biennial Scientific Meeting of The

    Abstracts from the 9Th Biennial Scientific Meeting of The

    International Journal of Pediatric Endocrinology 2017, 2017(Suppl 1):15 DOI 10.1186/s13633-017-0054-x MEETING ABSTRACTS Open Access Abstracts from the 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society (APPES) and the 50th Annual Meeting of the Japanese Society for Pediatric Endocrinology (JSPE) Tokyo, Japan. 17-20 November 2016 Published: 28 Dec 2017 PS1 Heritable forms of primary bone fragility in children typically lead to Fat fate and disease - from science to global policy a clinical diagnosis of either osteogenesis imperfecta (OI) or juvenile Peter Gluckman osteoporosis (JO). OI is usually caused by dominant mutations affect- Office of Chief Science Advsor to the Prime Minister ing one of the two genes that code for two collagen type I, but a re- International Journal of Pediatric Endocrinology 2017, 2017(Suppl 1):PS1 cessive form of OI is present in 5-10% of individuals with a clinical diagnosis of OI. Most of the involved genes code for proteins that Attempts to deal with the obesity epidemic based solely on adult be- play a role in the processing of collagen type I protein (BMP1, havioural change have been rather disappointing. Indeed the evidence CREB3L1, CRTAP, LEPRE1, P4HB, PPIB, FKBP10, PLOD2, SERPINF1, that biological, developmental and contextual factors are operating SERPINH1, SEC24D, SPARC, from the earliest stages in development and indeed across generations TMEM38B), or interfere with osteoblast function (SP7, WNT1). Specific is compelling. The marked individual differences in the sensitivity to the phenotypes are caused by mutations in SERPINF1 (recessive OI type obesogenic environment need to be understood at both the individual VI), P4HB (Cole-Carpenter syndrome) and SEC24D (‘Cole-Carpenter and population level.
  • Inherited Metabolic Disease

    Inherited Metabolic Disease

    Inherited metabolic disease Dr Neil W Hopper SRH Areas for discussion • Introduction to IEMs • Presentation • Initial treatment and investigation of IEMs • Hypoglycaemia • Hyperammonaemia • Other presentations • Management of intercurrent illness • Chronic management Inherited Metabolic Diseases • Result from a block to an essential pathway in the body's metabolism. • Huge number of conditions • All rare – very rare (except for one – 1:500) • Presentation can be non-specific so index of suspicion important • Mostly AR inheritance – ask about consanguinity Incidence (W. Midlands) • Amino acid disorders (excluding phenylketonuria) — 18.7 per 100,000 • Phenylketonuria — 8.1 per 100,000 • Organic acidemias — 12.6 per 100,000 • Urea cycle diseases — 4.5 per 100,000 • Glycogen storage diseases — 6.8 per 100,000 • Lysosomal storage diseases — 19.3 per 100,000 • Peroxisomal disorders — 7.4 per 100,000 • Mitochondrial diseases — 20.3 per 100,000 Pathophysiological classification • Disorders that result in toxic accumulation – Disorders of protein metabolism (eg, amino acidopathies, organic acidopathies, urea cycle defects) – Disorders of carbohydrate intolerance – Lysosomal storage disorders • Disorders of energy production, utilization – Fatty acid oxidation defects – Disorders of carbohydrate utilization, production (ie, glycogen storage disorders, disorders of gluconeogenesis and glycogenolysis) – Mitochondrial disorders – Peroxisomal disorders IMD presentations • ? IMD presentations • Screening – MCAD, PKU • Progressive unexplained neonatal
  • Journal of Medical Genetics April 1992 Vol 29 No4 Contents Original Articles

    Journal of Medical Genetics April 1992 Vol 29 No4 Contents Original Articles

    Journal of Medical Genetics April 1992 Vol 29 No4 Contents Original articles Beckwith-Wiedemann syndrome: a demonstration of the mechanisms responsible for the excess J Med Genet: first published as on 1 April 1992. Downloaded from of transmitting females C Moutou, C Junien, / Henry, C Bonai-Pellig 217 Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome D Viljoen, R Ramesar 221 Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation T Ogata, J R Hawkins, A Taylor, N Matsuo, J-1 Hata, P N Goodfellow 226 Highly polymorphic Xbol RFLPs of the human 21 -hydroxylase genes among Chinese L Chen, X Pan, Y Shen, Z Chen, Y Zhang, R Chen 231 Screening of microdeletions of chromosome 20 in patients with Alagille syndrome C Desmaze, J F Deleuze, A M Dutrillaux, G Thomas, M Hadchouel, A Aurias 233 Confirmation of genetic linkage between atopic IgE responses and chromosome 1 1 ql 3 R P Young, P A Sharp, J R Lynch, J A Faux, G M Lathrop, W 0 C M Cookson, J M Hopkini 236 Age at onset and life table risks in genetic counselling for Huntington's disease P S Harper, R G Newcombe 239 Genetic and clinical studies in autosomal dominant polycystic kidney disease type 1 (ADPKD1) E Coto, S Aguado, J Alvarez, M J Menendez-DIas, C Lopez-Larrea 243 Short communication Evidence for linkage disequilibrium between D16S94 and the adult onset polycystic kidney disease (PKD1) gene S E Pound, A D Carothers, P M Pignatelli, A M Macnicol, M L Watson, A F Wright 247 Technical note A strategy for the rapid isolation of new PCR based DNA polymorphisms P R Hoban, M F Santibanez-Koref, J Heighway 249 http://jmg.bmj.com/ Case reports Campomelic dysplasia associated with a de novo 2q;1 7q reciprocal translocation I D Young, J M Zuccollo, E L Maltby, N J Broderick 251 A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33-q35.1 R Tupler, P Maraschio, A Gerardo, R Mainieri G Lanzi L Tiepolo 253 on September 26, 2021 by guest.
  • Cryptophthalmos Syndrome: a Case Report

    Cryptophthalmos Syndrome: a Case Report

    Case Report Cryptophthalmos Syndrome: A Case Report Jawad Bin Yamin Butt, Tariq Mehmood Qureshi, Muhammad Tariq Khan, Anwar-ul-Haq Ahmad Pak J Ophthalmol 2014, Vol. 30 No.3 . .. .. See end of article for A 20 days female baby presented to us in OPD. She was the 4th child of normal authors affiliations parents with 3 normal siblings. She exhibited few features of cryptophthalmos which fit the criteria of Fraser syndrome. …..……………………….. Key words: Cryptophthalmos, Fraser syndrome, Eye lid defect. Correspondence to: Jawad Bin Yamin Butt Layton Benevolent Trust Hospital (LRBT), 436 A/I Township, Lahore …..……………………….. ryptophthalmos (CO) is defined as a set of rare CASE REPORT congenital eyelid defects in which the lid folds The patient is a 20 days old female. She is the 4th child C are unable to divide in the embryo and the of healthy parents. Her three older siblings are normal skin extends continuously from the forehead with no congenital malformation. The infant is full 1-3 onto the cheeks covering the eyes. CO maybe term and delivered by spontaneous vaginal delivery bilateral or unilateral and fluctuates in severity from which was eventless. The baby weighed 2900 grams at the presence of rudimentary, distorted eyelids to birth and exhibits normal feeding manner. complete absence of eyelids2. Autosomal recessive and autosomal dominant inheritance have been reported, Clinical evaluation exhibits complete absence of but most cases are autosomal recessive.4-8 right side eyelid formation with absent eyelashes. The skin is continuous from the forehead to the cheek, CO is of three clinical types: covering the entire globe.
  • Advances in Understanding the Genetics of Syndromes Involving Congenital Upper Limb Anomalies

    Advances in Understanding the Genetics of Syndromes Involving Congenital Upper Limb Anomalies

    Review Article Page 1 of 10 Advances in understanding the genetics of syndromes involving congenital upper limb anomalies Liying Sun1#, Yingzhao Huang2,3,4#, Sen Zhao2,3,4, Wenyao Zhong1, Mao Lin2,3,4, Yang Guo1, Yuehan Yin1, Nan Wu2,3,4, Zhihong Wu2,3,5, Wen Tian1 1Hand Surgery Department, Beijing Jishuitan Hospital, Beijing 100035, China; 2Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China; 3Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing 100730, China; 4Department of Orthopedic Surgery, 5Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China Contributions: (I) Conception and design: W Tian, N Wu, Z Wu, S Zhong; (II) Administrative support: All authors; (III) Provision of study materials or patients: All authors; (IV) Collection and assembly of data: Y Huang; (V) Data analysis and interpretation: L Sun; (VI) Manuscript writing: All authors; (VII) Final approval of manuscript: All authors. Correspondence to: Wen Tian. Hand Surgery Department, Beijing Jishuitan Hospital, Beijing 100035, China. Email: [email protected]. Abstract: Congenital upper limb anomalies (CULA) are a common birth defect and a significant portion of complicated syndromic anomalies have upper limb involvement. Mostly the mortality of babies with CULA can be attributed to associated anomalies. The cause of the majority of syndromic CULA was unknown until recently. Advances in genetic and genomic technologies have unraveled the genetic basis of many syndromes- associated CULA, while at the same time highlighting the extreme heterogeneity in CULA genetics. Discoveries regarding biological pathways and syndromic CULA provide insights into the limb development and bring a better understanding of the pathogenesis of CULA.
  • Erythrokeratodermia Variabilis Et Progressiva Allelic to Oculo-Dento

    Erythrokeratodermia Variabilis Et Progressiva Allelic to Oculo-Dento

    View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Elsevier - Publisher Connector COMMENTARY See related article on pg 1540 translocated into the plasma membrane. Once expressed on the cell surface, the hemichannel docks with a connexon of an adjacent cell to form a channel that Erythrokeratodermia Variabilis et is termed gap junction. Connexons can form either homotypic (docking of two Progressiva Allelic to Oculo-Dento- identical connexons), heterotypic (docking of two dissimilar homomeric Digital Dysplasia connexons), or heteromeric (docking of two heteromeric connexons) channels Sabine Duchatelet1,2 and Alain Hovnanian1,2,3 (Mese et al., 2007). These diverse Erythrokeratodermia variabilis et progressiva (EKVP) is a genodermatosis with combinations of connexins create clinical and genetic heterogeneity, most often transmitted in an autosomal different types of channels, each having dominant manner, caused by mutations in GJB3 and GJB4 genes encoding unique properties (ionic conductance, connexins (Cx)31 and 30.3, respectively. In this issue, Boyden et al. (2015) report permeability, sensitivity to voltage, or for the first time de novo dominant mutations in GJA1 encoding the ubiquitous pH). Of note, several connexins may also Cx43 in patients with EKVP. These results expand the genetic heterogeneity of form functional nonjunctional hemi- EKVP and the human disease phenotypes associated with GJA1 mutations. They channels, although their physiological disclose that EKVP is allelic to oculo-dento-digital dysplasia, a rare syndrome relevance remains uncertain (Pfenniger previously known to be caused by dominant GJA1 mutations. et al., 2010). Mutations in 11 connexin genes cause a variety of genetic dis- Journal of Investigative Dermatology (2015) 135, 1475–1478.