DOCSLIB.ORG

British Medical Association Tavistock Square London WC1

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
British Medical Association Tavistock Square London WC1 Journal of Medical Genetics February 1983 Vol 20 No 1 J Med Genet: first published as on 1 February 1983. Downloaded from Contents The genetic status of mothers of isolated cases of Duchenne muscular dystrophy R J M LANE, M ROBINOW, AND A D ROSES page 1 Huntington's chorea in South Wales: mutation, fertility, and genetic fitness D A WALKER, P S HARPER, R G NEWCOMBE, AND K DAVIES page 12 Investigation of malignant hyperthermia: analysis of skeletal muscle proteins from normal and halothane sensitive pigs by two dimensional gel electrophoresis P A LORKIN AND H LEHMANN page 18 Phenotypic variation in the familial atypical multiple mole-melanoma syndrome (FAMMM) H T LYNCH, R M FUSARO, W A ALBANO, J PESTER, W J KIMBERLING, AND J F LYNCH page 25 The effect of the acetylator phenotype on the metabolism of sulphasalazine in man A K AZAD KHAN, M NURAZZAMAN, AND S C TRUELOVE page 30 Acetylator phenotypes in Papua New Guinea R J A PENKETH, S F A GIBNEY, G T NURSE, AND D A HOPKINSON page 37 Immunological tolerance induced by in utero injection R D BARNES, B E POTTINGER, J MARSTON, P FLECKNELL, R H T WARD, S KALTER, AND R L HEBERLING page 41 Chromosome changes in Alzheimer's presenile dementia K E BUCKTON, L J WHALLEY, M LEE, AND J E CHRISTIE page 46 http://jmg.bmj.com/ Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: the EEM syndrome s OHDO, K HIRAYAMA, AND T TERAWAKI page 52 Consanguineous matings in the Egyptian population M HAFEZ, H EL-TAHAN, M AWADALLA, H EL-KHAYAT, A ABDEL-GAFAR, AND M GOHONEIM page 58 Dissection of the aorta in Turner's syndrome W H PRICE AND J WILSON page 61 on September 27, 2021 by guest. Protected copyright. Case reports A new alopecia/mental retardation syndrome M BARAITSER, C 0 CARTER, AND E M BRETT page 64 A female infant with features of Mohr and Majewski syndromes: variable expression, a genetic compound, or a distinct entity? M BARArTSER, J BURN, AND J FIXSEN page 65 Trisomy for 8p21-*pter owing to a familial translocation E F ALLEN AND W E HODGKIN page 68 Monosomy 22 with humorai immunodeficiency: is there an immunoglobulin chain deficit? J L GARCiA MIRANDA, A OTERO GOMEZ, H VARELA ANSEDES, N RANCEL TORRES, C GONZALEZ ESPINOSA, C CORTABARRfA, AND G SANCHEZ SALGADO page 69 Wildervanck's syndrome with bilateral subluxation of lens and facial paralysis P STRISCIUGLIO, V RAIA, A DI MEO, E RINALDI, AND G ANDRIA page 72 8p-thalassaemia in Sicily: report of a case of double heterozygosity for Ay ar-thalassaemia and AyGy8p-thalassaemia S MUSUMECI, M A ROMEO, G PIZZARELLI, G SCHILIR6 AND G RUSSO page 73 Correspondence page 76 Announcements page 80 ASTM CODEN: JMDGAE (20) 1-80 (1983) ISSN 0022-2593 British Medical Association Tavistock Square London WC1 Published by British Medical Association, Tavistock Square, London WCIH 9JR, and printed in England by The Devonshire Press Ltd., Torquay CONTENTS J Med Genet: first published as on 1 February 1983. Downloaded from No I FEBRUARY 1983 The genetic status of mothers of isolated cases of Duchenne muscular dystrophy R J M LANE, M ROBINOW, AND AD ROSES ..I Huntington's chorea in South Wales: mutation, fertility, and genetic fitness D A WALKER, P S HARPER, R G NEWCOMBE, AND K DAVIES 1 2 Investigation of malignant hyperthermia: analysis of skeletal muscle proteins from normal and halothane sensitive pigs by two dimensional gel electrophoresis P A LORKIN AND H LEHMANN.. 18 Phenotypic variation in the familial atypical multiple mole-melanoma syndrome (FAMMM) H T LYNCH, R M FUSARO, W A ALBANO, J PESTER, W J KIMBERLING, AND J F LYNCH 25 The effect of the acetylator phenotype on the metabolism of sulphasalazine in man A K AZAD KHAN, M NURAZZAMAN, AND S C TRUELOVE .. 30 Acetylator phenotypes in Papua New Guinea R J A PENKETH, S F A GIBNEY, G T NURSE, AND D A HOPKINSON 37 Immunological tolerance induced by in utero injection R D BARNES, B E POTTINGER, J MARSTON, P FLECKNELL, R H T WARD, S KALTER, AND R L HEBERLING .. .. .. .. .. 41 Chromosome changes in Alzheimer's presenile dementia K E BUCKTON, L J WHALLEY, M LEE, AND J E CHRISTIE .. .. .. .. .. .. .. .. .. .. .. .. 46 Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: the EEM syndrome S OHDO, K HIRAYAMA, AND T TERAWAKI .. .. .. .. .. .. .. .. 52 Consanguineous matings in the Egyptian population M HAFEZ, H EL-TAHAN, M AWADALLA, H EL-KHAYAT, A ABDEL-GAFAR, AND M GHONEIM .. .. .. .. .. 58 Dissection of the aorta in Turner's syndrome W H PRICE AND J WILSON .. .. .. 61 Case reports A new alopecia/mental retardation syndrome M BARAITSER, C 0 CARTER, AND E M BRETT .. 64 A female infant with features of Mohr and Majewski syndromes: variable expression, a genetic http://jmg.bmj.com/ compound, or a distinct entity? M BARAITSER, J BURN, AND J FIXSEN .. .. .. 65 Trisomy for 8p21-÷pter owing to a familial translocation E F ALLEN AND W E HODGKIN .. 68 Monosomy 22 with humoral immunodeficiency: is there an immunoglobulin chain deficit? J L GARCIA MIRANDA, A OTERO GOMEZ, H VARELA ANSEDES, N RANCEL TORRES, C GONZALEZ ESPINOSA, C CORTABARRIA, AND G SANCHEZ SALGADO .. .. .. .. .. .. .. .. 69 Wildervanck's syndrome with bilateral subluxation of lens and facial paralysis P STRISCIUGLIO, V RAIA, A DI MEO, E RINALDI, AND G ANDRIA .. .. .. .. .. .. .. .. 72 8p-thalassaemia in Sicily: report of a case of double heterozygosity for Ay 83-thalassaemia and on September 27, 2021 by guest. Protected copyright. AyGyt8-thalassaemia S MUSUMECI, M A ROMEO, G PIZZARELLI, G SCHILIRO, AND G RUSSO .. 73 Correspondence .. .. .. .. .. .. .. .. .. .. .. .. 76 Announcements .. .. .. .. .. .. .. .. .. .. .. .. 80 No 2 APRIL 1983 The effect of the male contraceptive agent Gossypol on human lymphocytes in vitro: traditional chromosome breakage, micronuclei, sister chromatid exchange, and cell kinetics Y-C TSUI, M R CREASY, AND M A HULTEN .. .. .. .. .. .. .. .. .. 81 Partial trisomy 12q: a clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q N R PRATT AND D T D BULUGAHAPITIYA .. .. .. .. 86 The incidence of Down's syndrome over a 19-year period with special reference to maternal age J R OWENS, F HARRIS, S WALKER, E McALLISTER, AND L WEST.. .. .. .. .. 90 Down's syndrome in twins of unlike sex A AVNI, J AMIR, E WILUNSKY, M B M KATZNELSON, AND S H REISNER .. .. .. .. .. .. .. .. .. .. .. .. 94 Two retarded male cousins with odd facies, hypotonia, and severe constipation: possible examples of the X linked FG syndrome J BURN AND N MARTIN .. .. .. .. .. .. 97 Hypostatic ulcers in 47,XXY Klinefelter's syndrome M S VERP, J L SIMPSON, AND A 0 MARTIN .. 100 Racial variation of a non-fluorescent segment of the Y chromosome in East Indians R S VERMA, A HUQ, AND H DOSIK .. .. .. .. .. .. .. .. .. .. .. 102 Partial monosomy of chromosome 10 short arms A GENUlK, U BRONNIMAN, R TOBLER, AND P AUF J Med Genet: first published as on 1 February 1983. Downloaded from DER MAUR.. .. .. .. .. .. .. .. .. .. .. .. .. 107 Ten genetic polymorphisms in bladder cancer R A CARTWRIGHT, R ADIB, I APPLEYARD, J G COXON, R W GLASHAN, B RICHARDS, M R G ROBINSON, E SUNDERLAND, AND D BARHAM-HALL .. 112 Spondyloperipheral dysplasia J VANEK .. .. .. .. .. 117 X linked recessive inheritance of agenesis of the corpus callosum P KAPLAN .. .. .. 122 A recessively inherited windmill-vane camptodactyly/ichthyosis syndrome M BARAITSER, J BURN, AND J FIXSEN .. .. .. 125 Recessively inherited brachydactyly type C M BARAITSER AND J BURN .. .. .. .. 128 Philtrum length and intercommissural distance in newborn infants Y SIVAN, P MERLOB, AND S H REISNER .. .. 130 Case reports Antenatal detection of grossly distended bladder owing to absence of the urethra in a fetus with trisomy 18 N C NEVIN, J NEVIN, J M DUNLOP, AND M GRAY .. .. .. .. .. 132 Graves' disease and Down's syndrome A J McCULLOCH, F CLARK, AND N R STEELE .. .. 133 Aberrant melanoblast migration associated with trisomy 18 mosaicism J CHEMKE, S RAPPAPORT, AND R ETROG .. .. .. .. 135 De novo tandem duplication 1 7pl 1--cen z DOCHERTY, M A HULTEN, AND M M HONEYMAN .. 1 38 Ring chromosome 10 and its clinical features H NAKAI, M ADACHI, N KATSUSHIMA, N YAMAZAKI, M SAKAMOTO, AND K TADA .. .. .. .. .. .. .. .. .. 142 Tetrasomy 18p: tentative delineation of a syndrome D A S BATISTA, A M VIANNA-MORGANTE, AND A RICHIERI-COSTA.. .. .. .. .. .. .. 144 Distal monosomy 14 not associated with ring formation S J HREIDARSSON AND J STAMBERG .. 147 Short reports A case of the G syndrome I D YOUNG .. .. .. .. .. .. .. .. 150 Translocation t(l ;20)(q21 ;ql3) in an azoospermic man A ANTONELLI, A DEL MARCO, P GABELLINI, F GIGLIANI, L MARCUCCI, AND P PETRINELLI .. .. .. .. .. .. .. 151 http://jmg.bmj.com/ Correspondence .. .. .. .. .. .. .. .. .. .. .. .. 152 Book reviews .. .. 158 Announcement.. .. .. .. .. .. .. 160 No 3 JUNE 1983 Editorial ...... .. .. .. .. .. .. 161 on September 27, 2021 by guest. Protected copyright. The cause of neural tube defects: some experiments and a hypothesis M J SELLER .. .. 164 Fragile X chromosome: clinical and cytogenetic studies on cases from seven families A McDERMOTT, R WALTERS, R T HOWELL, AND A GARDNER .. .. .. .. .. .. .. 169 Attitudes of subjects at risk and their relatives towards genetic counselling in Huntington's chorea A TYLER AND P S HARPER.. .. .. .. .. .. .. .. .. .. 179 Apolipoprotein B detected in the plasma of a patient with homozygous hypobetalipoproteinaemia: implications for aetiology G M B BERGER, G BROWN, H E HENDERSON, AND F BONNICI .. 189 Intrauterine death: an approach to the analysis of genetic heterogeneity E BOTTINI, L COROMALDI, E CARAPELLA, R PASCONE, M NICOTRA, I COGHI, N LUCARINI, AND F GLORIA-BOTTINI .. 196 Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36) R S YOUNG, S D SHAPIRO, K L HANSEN, L K HINE, D E RAINOSEK, AND F A GUERRA .
Load more

Recommended publications
  • 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].
    [Show full text]
  • 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).
    [Show full text]
  • Absent Meibomian Glands: a Marker for Eecsyndrome
    ABSENT MEIBOMIAN GLANDS: A MARKER FOR EECSYNDROME ELIZABETH BONNAR, PATRICIA LOGAN and PETER EUSTACE Dublin, Ireland SUMMARY watering eye for the previous week. He gave a A patient with a 20 year history of severe keratocon­ history of continuous attendance at eye clinics in junctivitis of unknown origin was found, on assessment various hospitals since the age of 3 years and was at a blepharitis clinic, to have complete absence of currently attending our own clinic, where he had last meibomian glands. Further examination revealed the been seen 1 month previously. Maintenance medica­ features of EEC syndrome. To our knowledge, this is tion was antiviral ointment and artificial tears. Old the only case to have been diagnosed in this way. The notes were unavailable on admission but there had ocular complications of EEC syndrome and other been a previous spontaneous perforation of the left ectodermal dysplasias are reviewed. cornea at the age of 15 years, and an operation for a blocked tear duct on the right side at the age of 8 The combination of ectrodactyly (lobster claw years. deformity of the hands and feet), ectodermal Vision was 6/18 on the right and hand movements dysplasia (abnormalities of hair, teeth, nails and on the left. There was marked photophobia and sweat glands) and cleft lip and palate, known as EEC tearing on both sides. The left cornea was opacified syndrome, is a rare multiple congenital abnormal­ and vascularised 360°, with central thinning and a ity.1,2 Fewer than 180 cases have been reported in the small perforation just inferonasal to the pupil (Fig.
    [Show full text]
  • Prevalence and Incidence of Rare Diseases: Bibliographic Data
    Number 1 | January 2019 Prevalence and incidence of rare diseases: Bibliographic data Prevalence, incidence or number of published cases listed by diseases (in alphabetical order) www.orpha.net www.orphadata.org If a range of national data is available, the average is Methodology calculated to estimate the worldwide or European prevalence or incidence. When a range of data sources is available, the most Orphanet carries out a systematic survey of literature in recent data source that meets a certain number of quality order to estimate the prevalence and incidence of rare criteria is favoured (registries, meta-analyses, diseases. This study aims to collect new data regarding population-based studies, large cohorts studies). point prevalence, birth prevalence and incidence, and to update already published data according to new For congenital diseases, the prevalence is estimated, so scientific studies or other available data. that: Prevalence = birth prevalence x (patient life This data is presented in the following reports published expectancy/general population life expectancy). biannually: When only incidence data is documented, the prevalence is estimated when possible, so that : • Prevalence, incidence or number of published cases listed by diseases (in alphabetical order); Prevalence = incidence x disease mean duration. • Diseases listed by decreasing prevalence, incidence When neither prevalence nor incidence data is available, or number of published cases; which is the case for very rare diseases, the number of cases or families documented in the medical literature is Data collection provided. A number of different sources are used : Limitations of the study • Registries (RARECARE, EUROCAT, etc) ; The prevalence and incidence data presented in this report are only estimations and cannot be considered to • National/international health institutes and agencies be absolutely correct.
    [Show full text]
  • Orphanet Report Series Rare Diseases Collection
    Marche des Maladies Rares – Alliance Maladies Rares Orphanet Report Series Rare Diseases collection DecemberOctober 2013 2009 List of rare diseases and synonyms Listed in alphabetical order www.orpha.net 20102206 Rare diseases listed in alphabetical order ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 289157 1-alpha-hydroxylase deficiency 309127 3-hydroxyacyl-CoA dehydrogenase 228384 5q14.3 microdeletion syndrome deficiency 293948 1p21.3 microdeletion syndrome 314655 5q31.3 microdeletion syndrome 939 3-hydroxyisobutyric aciduria 1606 1p36 deletion syndrome 228415 5q35 microduplication syndrome 2616 3M syndrome 250989 1q21.1 microdeletion syndrome 96125 6p subtelomeric deletion syndrome 2616 3-M syndrome 250994 1q21.1 microduplication syndrome 251046 6p22 microdeletion syndrome 293843 3MC syndrome 250999 1q41q42 microdeletion syndrome 96125 6p25 microdeletion syndrome 6 3-methylcrotonylglycinuria 250999 1q41-q42 microdeletion syndrome 99135 6-phosphogluconate dehydrogenase 67046 3-methylglutaconic aciduria type 1 deficiency 238769 1q44 microdeletion syndrome 111 3-methylglutaconic aciduria type 2 13 6-pyruvoyl-tetrahydropterin synthase 976 2,8 dihydroxyadenine urolithiasis deficiency 67047 3-methylglutaconic aciduria type 3 869 2A syndrome 75857 6q terminal deletion 67048 3-methylglutaconic aciduria type 4 79154 2-aminoadipic 2-oxoadipic aciduria 171829 6q16 deletion syndrome 66634 3-methylglutaconic aciduria type 5 19 2-hydroxyglutaric acidemia 251056 6q25 microdeletion syndrome 352328 3-methylglutaconic
    [Show full text]
  • Association of Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy: the EEM Syndrome
    J Med Genet: first published as 10.1136/jmg.20.1.52 on 1 February 1983. Downloaded from Journal ofMedical Genetics, 1983, 20, 52-57 Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: the EEM syndrome SHOZO OHDO, KIYOTAKE HIRAYAMA, AND TAMOTSU TERAWAKI From the Department ofPediatrics, Miyazaki Medical College; the Department ofPediatrics, Faculty ofMedicine, Ryukyu University; andthe Department ofPediatrics, Faculty ofMedicine, Kagoshima University, Japan. SUMMARY We report five patients with ectodermal dysplasia, ectrodactyly associated with syndactyly or cleft hand or both, and, in addition, macular dystrophy which was presumed to be progressive, in an isolated population on a remote island in Japan. The heredity of this syndrome was thought to be autosomal recessive. Three cases have been reported so far with a combination of the same abnor- malities. The parents in these cases were consanguineous.' 2 Among the syndromes of ectodermal dysplasia we first examined her. Her parents were first cousins associated with malformations of the extremities, and had no signs of ectrodactyly or ectodermal there are Roberts's syndrome,' EEC syndrome,4 the dysplasia. Her two sibs were healthy. syndrome reported by Robinson et al,5 the syndrome On physical examination, her hair was very sparse, reported by Freire-Maia,6 and the syndrome reported thin, and short and the eyebrows and eyelashes werecopyright. by Bowen and Armstrong.7 However, these also sparse and thin (fig 2). Her teeth were small and syndromes clearly differ from the syndrome described widely spaced, numbering 25 in all. Cardiac murmur in this paper, because they lack the characteristic was not heard.
    [Show full text]
  • Back Matter 611-642.Pdf
    Index A Acrodysostosis, 527, 538 Aarskog syndrome, 527, 537 Acrofacial dysostosis 1, 580–581 differentiated from Opitz G/BBB Acrofacial dysplasia, 563 syndrome, 458 Acro-fronto-facio-nasal dysostosis Aase-Smith syndrome, 527 syndrome, 527, 538–539 Aase syndrome, 527, 537 Acromegaloid facial appearance Abducens nerve. See Cranial nerve VI syndrome, 527, 539 Abduction, Möbius sequence-related Acromegaloid phenotype-cutis verticis impairment of, 197, 198 gyrata-cornea leukoma, 527, 539 Abetalipoproteinemia, 527, 537 Acromesomelic dysplasia, Maroteaux- Ablepharon-macrostomia syndrome, Martinelli-Campailla type, 527, 527, 538 539 Abortion, spontaneous, chromosomal Acromicric dysplasia, 527, 539 abnormalities associated with, 83 Acro-osteolysis syndrome, 565 Abruzzo-Erickson syndrome, 527, 538 Acro-reno-ocular syndrome, 527, Acanthosis, 607 539 Acanthosis nigricans, Crouzon Acyclovir, 504, 505, 518 syndrome-related, 169 Adam complex, 207–209 Physician-parent interactions, Adams-Oliver syndrome, 527, 540 69–70 Adduction, Möbius sequence-related Acetyl-coenzyme A deficiency, 364 impairment of, 197, 198 N-Acetylcystine, 321 Adenoma sebaceum, tuberous sclerosis N-Acetyl galactosamine-4-sulfatase complex-related, 304, 308–309 deficiency, 366 Adrenocorticotropic hormone, 433 N-Acetyl galactosamine-6-sulfatase Aging, premature. See also Progeria deficiency, 357, 365 ataxia-telangiectasia-related, 320 a-N-Acetyl glucosaminidase acetyl Aglossia-adactyly syndrome, 584–585 transferase deficiency, 357 Agnathia-holoprosencephaly, 54 a-N-Acetyl glucosaminidase
    [Show full text]
  • Skeletal Dysplasias Precision Panel Overview Indications
    Skeletal Dysplasias Precision Panel Overview Skeletal Dysplasias, also known as osteochondrodysplasias, are a clinically and phenotypically heterogeneous group of more than 450 inherited disorders characterized by abnormalities mainly of cartilage and bone growth although they can also affect muscle, tendons and ligaments, resulting in abnormal shape and size of the skeleton and disproportion of long bones, spine and head. They differ in natural histories, prognoses, inheritance patterns and physiopathologic mechanisms. They range in severity from those that are embryonically lethal to those with minimum morbidity. Approximately 5% of children with congenital birth defects have skeletal dysplasias. Until recently, the diagnosis of skeletal dysplasia relied almost exclusively on careful phenotyping, however, the advent of genomic tests has the potential to make a more accurate and definite diagnosis based on the suspected clinical diagnosis. The 4 most common skeletal dysplasias are thanatophoric dysplasia, achondroplasia, osteogenesis imperfecta and achondrogenesis. The inheritance pattern of skeletal dysplasias is variable and includes autosomal dominant, recessive and X-linked. The Igenomix Skeletal Dysplasias Precision Panel can be used to make a directed and accurate differential diagnosis of skeletal abnormalities ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum
    [Show full text]
  • Inherited Retinal Degeneration Precision Panel Overview
    Inherited Retinal Degeneration Precision Panel Overview Inherited Retinal Degeneration (IRD) are a group of rare retinal diseases that ultimately lead to the progressive loss of retinal photoreceptor cells and blindness. These diseases are phenotypically heterogeneous as they can affect individuals of all ages, can progress at different rates and are rare. IRDs are caused by mutations in genes that contribute to proper retinal function, where some genes mutations can cause more severe forms than others. Examples of these diseases include age-related macular degeneration, Leber congenital amaurosis, Stargardt disease and retinitis pigmentosa. Inherited retinal degeneration can be inherited in all modes of inheritance: autosomal dominant, autosomal recessive, X-linked and mitochondria. The Igenomix Inherited Retinal Degeneration Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of progressive blindness ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved. Indications The Igenomix Inherited Retinal Degeneration Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations: - Blurred vision - Family history of inhertied retinal degeneration - Difficulties with peripheral vision - Difficulties with color vision - Reduction in the sharpness of vision Clinical Utility The clinical utility of this panel is: - The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient. - Early initiation of treatment with a multidisciplinary team in the form of stem cell therapy, gene therapy and optogenetic therapy.
    [Show full text]
  • Current Genetics in Hair Diseases
    Chapter 1 Current Genetics in Hair Diseases Yutaka Shimomura Additional information is available at the end of the chapter http://dx.doi.org/10.5772/54004 1. Introduction (HF) is a skin appendage which exists on the entire skin surface, except for palmoplantar and mucosal regions. During embryogenesis, HF development is operated through reciprocal interactions between skin epithelial cells and underlying dermal cells [1]. The first signal to induce HF formation is considered to originate from the dermal cells. The epithelial cells which receive the dermal signal lead to form a placode (Figure 1). Then a signal from the placode results in forming a dermal condensate just beneath the placode (Figure 1). Additional interaction between these structures induces the downgrowth of the placode and forms a hair germ, which is the source of epithelial components of the HF (Figure 2). The dermal condensate is gradually surrounded by the HF epithelium and becomes a dermal papilla. It has been shown that many signaling molecules, such as Wnt, ectodysplasin (Eda), Figure 1. Hair follicle placode (mouse embryo; E15.5) © 2013 Shimomura, licensee InTech. This is an open access chapter distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. 2 Current Genetics in Dermatology Figure 2. Hair germ (mouse embryo; E16.5) bone morphogenic protein (Bmp), and sonic hedgehog (Shh), play crucial roles in the HF development [1]. After the HF is generated, it undergoes dynamic cell kinetics, known as the hair cycle, throughout postnatal life, which is composed of three phases: catagen (regressing) phase, telogen (resting) phase and anagen (growing) phase [2].
    [Show full text]
  • Genetic Diseases of Junctions Joey E
    View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Elsevier - Publisher Connector PERSPECTIVE Genetic Diseases of Junctions Joey E. Lai-Cheong1, Ken Arita1,2 and John A. McGrath1 Tight junctions, gap junctions, adherens junctions, and desmosomes represent intricate structural intercellular channels and bridges that are present in several tissues, including epidermis. Clues to the important function of these units in epithelial cell biology have been gleaned from a variety of studies including naturally occurring and engineered mutations, animal models and other in vitro experiments. In this review, we focus on mutations that have been detected in human diseases. These observations provide intriguing insight into the biological complexities of cell–cell contact and intercellular communication as well as demonstrating the spectrum of inherited human diseases that are associated with mutations in genes encoding the component proteins. Over the last decade or so, human gene mutations have been reported in four tight junction proteins (claudin 1, 14, 16, and zona occludens 2), nine gap junction proteins (connexin 26, 30, 30.3, 31, 32, 40, 43, 46, and 50), one adherens junction protein (P-cadherin) and eight components of desmosomes (plakophilin (PKP) 1 and 2, desmoplakin, plakoglobin – which is also present in adherens junctions, desmoglein (DSG) 1, 2, 4, and corneodesmosin). These discoveries have often highlighted novel or unusual phenotypes, including abnormal skin barrier function, alterations in epidermal differentiation, and developmental anomalies of various ectodermal appendages, especially hair, as well as a range of extracutaneous pathologies. However, this review focuses mainly on inherited disorders of junctions that have an abnormal skin phenotype.
    [Show full text]
  • Aase–Smith Syndrome, 231 Abboud, M.R., 381 Abdallat Syndrome, 196
    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,
    [Show full text]