Abstract:
:A brother and two sisters of remotely consanguineous parents had congenital laryngeal abductor paralysis and moderate mental retardation. In the two older sibs, mental deficiency could have resulted from birth asphyxia, but the youngest girl was already microcephalic at birth and had no apparent asphyxia. The mother, who was healthy and of normal intelligence, was found on laryngoscopy to have unilateral laryngeal abductor paralysis. This is the first family with both mentally retarded and nonretarded affected members with congenital laryngeal abductor paralysis. Inheritance is most likely autosomal dominant with variable expression, but autosomal recessive inheritance, with both parents carriers and the mother an affected homozygote, and X linked inheritance are also possible.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Schinzel A,Hof E,Dangel P,Robinson Wdoi
10.1136/jmg.27.11.715subject
Has Abstractpub_date
1990-11-01 00:00:00pages
715-6issue
11eissn
0022-2593issn
1468-6244journal_volume
27pub_type
杂志文章abstract:BACKGROUND:Disruption of granulocyte/macrophage colony-stimulating factor (GM-CSF) signalling causes pulmonary alveolar proteinosis (PAP). Rarely, genetic defects in neonatal or infant-onset PAP have been identified in CSF2RA. However, no report has clearly identified any function-associated genetic defect in CSF2RB. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2010.082586
更新日期:2011-03-01 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:BACKGROUND:Fanconi anaemia is a heterogeneous genetic disease, where 12 complementation groups have been already described. Identifying the complementation group in patients with Fanconi anaemia constitutes a direct procedure to confirm the diagnosis of the disease and is required for the recruitment of these patients ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2006.044719
更新日期:2007-04-01 00:00:00
abstract::21-hydroxylase deficiency is a recessively inherited disorder of steroidogenesis, resulting from mutations in the CYP21 gene. This 3.5 kb gene and a highly related CYP21P pseudogene reside on tandemly duplicated 30 kb segments of DNA in the class III HLA region, and the great majority of pathogenic mutations result fr...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:
更新日期:1999-02-01 00:00:00
abstract::Analysis of a large tuberous sclerosis pedigree confirmed linkage to a locus on the long arm of chromosome 9, with recombination events placing the disease gene distal to gelsolin and proximal to dopamine beta-hydroxylase. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.3.224
更新日期:1993-03-01 00:00:00
abstract::Hirschsprung disease, mental retardation, microcephaly, and specific craniofacial dysmorphism were observed in three children from a large, consanguineous, Moroccan family. A fourth child showed similar clinical features, with the exception of Hirschsprung disease. The association of these abnormalities in these child...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:
更新日期:1999-06-01 00:00:00
abstract:BACKGROUND:Inherited abnormalities of complement are found in ∼60% of patients with atypical haemolytic uraemic syndrome (aHUS). Such abnormalities are not fully penetrant. In this study, we have estimated the penetrance of the disease in three families with a CFH mutation (c.3643C>G; p. Arg1215Gly) in whom a common li...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2014-102498
更新日期:2014-11-01 00:00:00
abstract::Germline mutations of the LKB1 (STK11) serine/threonine kinase gene (chromosome 19p13.3) cause Peutz-Jeghers syndrome, which is characterised by hamartomas of the gastrointestinal tract and typical pigmentation. Peutz-Jeghers syndrome carries an overall risk of cancer that may be up to 20 times that of the general pop...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:
更新日期:1999-05-01 00:00:00
abstract:BACKGROUND:Male infertility is a prevalent issue worldwide, mostly due to the impaired sperm motility. Multiple morphological abnormalities of the sperm flagella (MMAF) present aberrant spermatozoa with absent, short, coiled, bent and irregular-calibre flagella resulting in severely decreased motility. Previous studies...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2019-106344
更新日期:2020-02-01 00:00:00
abstract:BACKGROUND:Clubfoot is a common congenital birth defect with complex inheritance patterns. Currently, the genetic and morphological basis of clubfoot is poorly understood. To identify genetic risk factors associated with clubfoot, we performed a genome-wide association study of common genetic variants. METHODS:The DNA...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2014-102303
更新日期:2014-05-01 00:00:00
abstract::Genetic testing for hereditary cancer predisposition has evolved rapidly in recent years with the discovery of new genes, but there is much debate over the clinical utility of testing genes for which there are currently limited data regarding the degree of associated cancer risk. To address the discrepancies that have...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2017-105188
更新日期:2018-06-01 00:00:00
abstract::The APC gene was investigated in 31 unrelated polyposis coli families by SSCP analysis and the protein truncation test. Twenty-three germline mutations were identified which gave rise to a variety of different phenotypes. Some of these mutations have already been described; however we report six previously unpublished...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.33.4.274
更新日期:1996-04-01 00:00:00
abstract::Four studies reported an increasing incidence of pyloric stenosis during the late 1970s from geographically diverse areas of the United Kingdom. It was suggested that the increased incidence might be related to changes in infant feeding practices. We used data from the Metropolitan Atlanta Congenital Defects Program, ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.24.8.482
更新日期:1987-08-01 00:00:00
abstract::A girl aged 14 years 9 months, overweight, with severe psychomotor retardation, short stature, a sheep-like face, malformed ears, skeletal and dermatoglyphic abnormalities, and partial deletion of the short arm of chromosome 1 is presented. The karyotype was 46,XX,del(1)(qter to p22::p32 to pter). ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.16.4.323
更新日期:1979-08-01 00:00:00
abstract::The detailed clinical features and progress of a child with homozygous alpha 2(I) collagen deficiency are described. Clinically, the disease presents as severe progressive Sillence type III osteogenesis imperfecta. The main biochemical defect is the synthesis of an abnormal pro alpha 2(I) chain which does not associat...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.21.4.257
更新日期:1984-08-01 00:00:00
abstract::Usher syndrome type I is an autosomal recessive disease characterised by congenital sensorineural deafness, involvement of the vestibular system, and progressive visual loss owing to retinitis pigmentosa. Here we report the association of this disease with bronchiectasis, chronic sinusitis, and reduced nasal mucocilia...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.3.253
更新日期:1993-03-01 00:00:00
abstract::A mother with apparently balanced translocation between chromosomes 4 and 22 gave birth to two children (sib 1 and twin A) with 45,XX,der(4)t(4;22) (p16.3;q11.2)mat,-22 and 45,XY,der(4)t(4; 22(p16.3;q11.2)mat,-22 karyotypes. The mother was a slow learner and required special education. The imbalance in the sibs arose ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.33.10.852
更新日期:1996-10-01 00:00:00
abstract:BACKGROUND:Lymphangioleiomyomatosis (LAM) is a prominent finding in the setting of tuberous sclerosis complex (TSC). OBJECTIVE:The present study was designed to compare cystic lung changes consistent with LAM in patients with a TSC1 disease-causing mutation, TSC2 disease-causing mutation, or no mutation identified (NM...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2008.065342
更新日期:2009-07-01 00:00:00
abstract::A study of mutation, biological fitness, and patterns of family building in Huntington's chorea has been carried out, based on a previously reported population study of the disorder in South Wales. No unequivocal new mutation was identified among 101 kindreds containing 418 affected persons, which supports the extreme...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.20.1.12
更新日期:1983-02-01 00:00:00
abstract:INTRODUCTION:We report a 34-year-old Japanese female with a Silver-Russell syndrome (SRS)-like phenotype and a mosaic Turner syndrome karyotype (45,X/46,XX). METHODS/RESULTS:Molecular studies including methylation analysis of 17 differentially methylated regions (DMRs) on the autosomes and the XIST-DMR on the X chromo...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2010.079343
更新日期:2010-11-01 00:00:00
abstract:BACKGROUND:Clefts of the lip and palate are common birth defects, affecting approximately 1 in 700 births worldwide. The aetiology of clefting is complex, with multiple genetic and environmental influences. METHODS:Genotype based linkage disequilibrium analysis was conducted using the family based association test (FB...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2005.034785
更新日期:2006-06-01 00:00:00
abstract::The beta thalassaemia alleles in 50 beta thalassaemia heterozygotes originating from many parts of the United Arab Emirates (UAE) have been characterised using the allele specific priming technique of the polymerase chain reaction (PCR). The IVSI-5 (G-->C) mutation was found to be present in 66%, while six other allel...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.31.1.59
更新日期:1994-01-01 00:00:00
abstract:BACKGROUND:Leber congenital amaurosis (LCA) is the earliest and most severe inherited retinal degeneration. Isolated forms of LCA frequently result from mutation of the CEP290 gene which is expressed in various ciliated tissues. METHODS:Seven LCA patients with CEP290 mutations were investigated to study otorhinolaryng...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2010.077883
更新日期:2010-12-01 00:00:00
abstract::A Brazilian family of Italian descent is described in which the beta-thalassaemia gene is interacting with an alpha chain variant Hb Hasharon (alpha 47 Asp leads to His). One patient who was affected by homozygous beta 0-thalassaemia and heterozygous alpha Hasharon displayed the clinical picture of thalassaemia interm...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.19.6.437
更新日期:1982-12-01 00:00:00
abstract::The BglII polymorphism near the constant region of the T cell receptor beta chain (TCR c beta) has been investigated in normal controls, patients with cystic fibrosis (CF), and CF carriers. A significant increase was found in the frequency of the 10.0:9.2 kb heterozygous genotype in the CF carrier group (71%) as compa...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.26.7.431
更新日期:1989-07-01 00:00:00
abstract::Mutations in the 12S rRNA gene of the mitochondrial genome are responsible for maternally inherited non-syndromic hearing loss (NSHL), and for increased susceptibility to the ototoxicity of aminoglycoside antibiotics. Among these mutations, 1555A-->G is the most prevalent in all populations tested so far. Recently, th...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2006.042440
更新日期:2006-11-01 00:00:00
abstract::The inheritance of restriction fragment length polymorphisms for two fibrillar collagen genes (COL1A2 and COL3A1) has been studied in a large Marfan syndrome kindred. We are able to show discordant segregation between the Marfan syndrome and each of the two collagen gene markers. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.24.3.148
更新日期:1987-03-01 00:00:00
abstract:BACKGROUND:Early infantile epileptic encephalopathies usually manifest as severely impaired cognitive and motor development and often result in a devastating permanent global developmental delay and intellectual disability. A large set of genes has been implicated in the aetiology of this heterogeneous group of disorde...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-101223
更新日期:2013-02-01 00:00:00
abstract::We report on two brothers and one maternal cousin with severe mental retardation, microcephaly, short stature, cryptorchidism, and spastic diplegia. The patients were born to normal and non-consanguineous parents. All other members of the family, almost exclusively females, were clinically normal, suggesting X linked ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.35.4.284
更新日期:1998-04-01 00:00:00
abstract::We report a family with type 2 neurofibromatosis and late onset tumours. Five members of this family have developed hearing loss late in life, two of whom have only been shown to have the diagnosis in their seventies, and three other obligate gene carriers died undiagnosed at 64, 72, and 78 years of age. A missense mu...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.6.470
更新日期:1995-06-01 00:00:00