Abstract:
:Four different Waardenburg syndromes have been defined based upon observed phenotypes. These syndromes are responsible for approximately 2% of subjects with profound congenital hearing loss. At present, Waardenburg syndromes have not been mapped to particular human chromosomes. One or more of the mouse mutant alleles, Ph (patch), s (piebald), Sp (splotch), and Mior (microphthalmia-Oak Ridge) and the hamster mutation Wh (anophthalmic white) may be homologous to mutations causing Waardenburg syndromes. In heterozygotes, phenotypic effects of these four mouse mutations and the hamster mutation are similar to the phenotypes produced by different Waardenburg syndrome mutations. The chromosomal locations and syntenic relationships associated with three of the four mouse mutant genes have been used to predict human chromosomal locations for Waardenburg syndromes: (1) on chromosome 2q near FN1 (fibronectin 1), (2) on chromosome 3p near the proto-oncogene RAF1 or 3q near RHO (rhodopsin), and (3) on chromosome 4p near the proto-oncogene KIT. Waardenburg syndromes show extensive intrafamilial phenotypic variability. Results of our studies with the hamster mutation Wh suggest that this variability may be explained in part by modifier genes segregating within families.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Asher JH Jr,Friedman TBdoi
10.1136/jmg.27.10.618subject
Has Abstractpub_date
1990-10-01 00:00:00pages
618-26issue
10eissn
0022-2593issn
1468-6244journal_volume
27pub_type
杂志文章abstract:BACKGROUND:Agenesis of corpus callosum has been associated with several defects of the mitochondrial respiratory chain and the citric acid cycle. We now report the results of the biochemical and molecular studies of a patient with severe neurodevelopmental disease manifesting by agenesis of corpus callosum and optic ne...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-101485
更新日期:2013-04-01 00:00:00
abstract::Mitochondria play a central role in the secretion of insulin by pancreatic beta-cells, and pathogenic mutations of mitochondrial DNA (mtDNA) can cause diabetes. The aetiology of type 2 diabetes has a strong genetic component, raising the possibility that genetic variants of mtDNA alter the risk of developing the disor...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2007.048876
更新日期:2007-06-01 00:00:00
abstract:BACKGROUND:The lethal short rib polydactyly syndromes (SRP type I-IV) are characterised by notably short ribs, short limbs, polydactyly, multiple anomalies of major organs, and autosomal recessive mode of inheritance. Among them, SRP type II (Majewski; MIM 263520) is characterised by short ovoid tibiae or tibial agenes...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2011-100717
更新日期:2012-04-01 00:00:00
abstract::The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and the subsequent redefinition of SLOS as an inborn error of cholesterol metabolism have led to important new treatment possibilities for affected patients...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.37.5.321
更新日期:2000-05-01 00:00:00
abstract::A majority of cystic fibrosis (CF) genes (70 to 75%) share a single mutation, but the remaining 25 to 30% of defects are accounted for by more than 20 different mutations. One of the less frequent mutations, G551D, has been identified in the CF genes of two sibs and one unrelated adult patient. The adult patient also ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.28.1.34
更新日期:1991-01-01 00:00:00
abstract:BACKGROUND:The genetic complexity of infantile cardiomyopathies is remarkable, and the importance of mitochondrial translation defects as a causative factor is only starting to be recognised. We investigated the genetic basis for infantile onset recessive hypertrophic cardiomyopathy in two siblings. METHODS AND RESULT...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-101375
更新日期:2013-03-01 00:00:00
abstract::Girls and women with Turner syndrome are at risk for catastrophic aortic dissection and rupture, but the clinical profile for those at risk is not well described. In addition to reporting two new cases, we performed an electronic search to identify all reported cases of aortic dissection associated with Turner syndrom...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.2007.052019
更新日期:2007-12-01 00:00:00
abstract::Despite increased expenditure, productivity of the pharmaceutical industry has decreased and currently 90% of developed molecules entering phase II and phase III clinical trials fail to gain regulatory approval. Most of these failures are due to lack of therapeutic efficacy rather than lack of safety, suggesting that ...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmedgenet-2014-102438
更新日期:2015-02-01 00:00:00
abstract::Spinocerebellar ataxia type 2 (SCA2) is caused by the expansion of an unstable CAG repeat encoding a polyglutamine tract. Repeats with 32 to 200 CAGs are associated with the disease, whereas normal chromosomes contain 13 to 33 repeats. We tested 220 families of different geographical origins for the SCA2 mutation. Thi...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:
更新日期:1999-05-01 00:00:00
abstract::A family is described in which the father and three of his seven children have microcephaly, mild to moderate mental retardation, and sparse hair. The two affected boys have generalised seizures in addition. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.27.2.127
更新日期:1990-02-01 00:00:00
abstract::A study was performed to evaluate the effect on the frequency of sister chromatid exchange in first trimester chorionic villi of two chemical compounds, mitomycin C and cyclophosphamide. Mitomycin C is generally known to induce an increase in sister chromatid exchange both in vivo and in vitro standard conditions. Cyc...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.2.109
更新日期:1992-02-01 00:00:00
abstract::A review of the data supports the suggestion of Knox (1974) that the sex ratio and incidence of anencephalics vary together within populations, as they are known to do between populations. There seems some doubts, though, whether Knox was correct in hypothesising that the sex ratio of anencephalics varies with their i...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.16.2.129
更新日期:1979-04-01 00:00:00
abstract::Type 1 Gaucher disease families were studied in an attempt to establish a phenotype/genotype correlation in affected persons and also to identify carriers accurately. In the Portuguese type 1 Gaucher patients, screening for mutations N370S, L444P, R463C, and 1066 + 1 G-->A allowed the identification of 85% of the alle...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.31.5.401
更新日期:1994-05-01 00:00:00
abstract::Shortening of the tubular bones of the hands and feet with cone shaped epiphyses is known as peripheral dysostosis and is common to several syndromes including acrodysostosis and Albright's hereditary osteodystrophy (AHO). The underlying defect in AHO is known to be a reduction in bioactivity of the alpha subunit of t...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.2.133
更新日期:1997-02-01 00:00:00
abstract::We report two sibs with features overlapping those of orofaciodigital syndrome type VI (Varadi syndrome). Both presented at birth with oculomotor abnormalities, dysmorphic facial features, and dysgenesis of the cerebellar vermis. There were minimal oral manifestations (high arched palate) in both of them and one had p...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:
更新日期:1999-02-01 00:00:00
abstract::We report here a father and daughter with digital abnormalities, nasolacrimal duct obstruction, and variable alopecia. The father had a cleft lip and palate and the daughter had choanal atresia. We propose they both have the EEC syndrome and show the variable expressivity of this disorder. Choanal atresia has not been...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.26.9.586
更新日期:1989-09-01 00:00:00
abstract:BACKGROUND:Acrocallosal syndrome (ACLS) is a rare recessive disorder characterised by corpus callosum agenesis or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and severe mental retardation. Recently, we identified mutations in KIF7, a key component of the Sonic hedgehog pathwa...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-101016
更新日期:2012-11-01 00:00:00
abstract:BACKGROUND:Spontaneous read-through of a premature termination codon (PTC) has so far not been observed in patients carrying nonsense mutations. This report describes a patient with junctional epidermolysis bullosa who was expected to die because of compound heterozygous nonsense mutations in the gene LAMA3 (R943X/R115...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2011.089615
更新日期:2011-09-01 00:00:00
abstract::An infant with congenital chondrodysplasia punctata with a secondary deformation of umbilical cord hernia is reported. The paper discusses deformation syndromes as anomalies due to unusual mechanical or intrinsic factors. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.23.1.84
更新日期:1986-02-01 00:00:00
abstract::The vocabulary currently used to describe genetic variants and their consequences reflects many years of studying and discovering monogenic disease with high penetrance. With the recent rapid expansion of genetic testing brought about by wide availability of high-throughput massively parallel sequencing platforms, acc...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2018-105872
更新日期:2019-06-01 00:00:00
abstract::An association between Gaucher disease and Parkinson disease has been demonstrated by the concurrence of Gaucher disease and parkinsonism in rare patients and the identification of glucocerebrosidase mutations in probands with sporadic Parkinson disease. Using a different and complementary approach, we describe 10 unr...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2004.024455
更新日期:2004-12-01 00:00:00
abstract:BACKGROUND:Germ-line mutations in CYLD are found in patients with familial skin appendage tumours. The protein product functions as a deubiquitinase enzyme, which negatively regulates NF-kappaB and c-Jun N-terminal kinase signalling. Brooke-Spiegler syndrome (BSS) is characterised by cylindromas, trichoepitheliomas and...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2007.056127
更新日期:2008-05-01 00:00:00
abstract::A sequential silver-Giemsa (SG) procedure is presented, initially to stain the p11 and q11 euchromatic bands and subsequently the q12 heterochromatic band of the human Y chromosomes. A three sub-band division of the q11 band can be identified. The same technique differentially stains the secondary constriction of chro...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.17.6.468
更新日期:1980-12-01 00:00:00
abstract::We describe a female infant with mental retardation and some of the phenotypic features of Williams-Beuren syndrome. Chromosome analysis showed t(X;21)(q28;q11). Diagnosis, inactivation of the X chromosome, and possible involvement of the translocation breakpoints in the pathogenesis of this syndrome are discussed. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.10.747
更新日期:1992-10-01 00:00:00
abstract:BACKGROUND:Five single nucleotide polymorphisms (SNPs) were previously reported to be associated with thyroid cancer in European populations in two genome-wide association studies (GWAS): rs965513 (9q22.33), rs944289 (14q13.3), rs116909374 (14q13.3), rs966423 (2q35) and rs2439302 (8p12). Only the first two SNPs have be...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2013-101687
更新日期:2013-10-01 00:00:00
abstract:BACKGROUND:The use of array comparative genome hybridisation (CGH) analyses for investigation of children with mental retardation has led to the identification of a growing number of new microdeletion and microduplication syndromes, some of which have become clinically well characterised and some that await further del...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2008.065094
更新日期:2009-10-01 00:00:00
abstract::A two generation family with neurofibromatosis type 2 (NF2) is presented in which a family member requested presymptomatic molecular diagnosis. Since the consultand's mother had clinically well defined NF2, he was quoted to be at 50% risk of carrying an NF2 mutation. Mutation screening in the mother did not show the c...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.11.934
更新日期:1997-11-01 00:00:00
abstract::We report on a boy with a maternal uniparental disomy for chromosome 14 (UPD(14)). At 7 years of age he was referred to us by the paediatrician because of symptoms of Prader-Willi syndrome (PWS). He showed short stature, obesity, mild developmental delay, cryptorchidism, and some mild dysmorphic features. The history ...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.36.10.782
更新日期:1999-10-01 00:00:00
abstract::It is well known that subjects homozygous for a rare silent allele of ADA may experience a severe combined immunodeficiency. By analogy we have investigated the possible relationship of normal ADA polymorphism with some situations, such as reproductive defects and fetomaternal interactions, in which immunological mech...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.18.5.331
更新日期:1981-10-01 00:00:00
abstract::Leprechaunism is a rare autosomal recessive disorder associated with extreme insulin resistance with paradoxical hypo-glycaemia. It is characterised by prenatal and postnatal growth retardation, reduced subcutaneous tissue, coarse features, acanthosis nigricans, enlarged genitalia, and death in the first year of life....
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.6.470
更新日期:1993-06-01 00:00:00