Cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy
نویسندگان
چکیده
منابع مشابه
Autosomal dominant exudative vitreoretinopathy.
Twelve affected members from 3 families with autosomal dominant exudative vitreouretinopathy were examined, and the following conclusions were drawn: (1) There is great variability in the phenotypic expression of the abnormal gene, such that many patients have very mild disease which can be detected with certainty only by fluorescein angiography. (2) Gene penetrance is close to 100%. (3) Progre...
متن کاملVisual loss from retinal oedema in autosomal dominant exudative vitreoretinopathy.
Correspondence to Professor A. C. Bird. ance pattern and delineated the spectrum of its expression more fully. They emphasised that the major threats to vision are haemorrhage and retinal detachment, that progression is limited to the early years of life, and specifically that visual loss has not been recorded in patients older than 18 years. In this report we present a patient with autosomal d...
متن کاملKIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy.
BACKGROUND/AIMS To identify KIF11 mutations in patients with familial exudative vitreoretinopathy (FEVR) and to describe the associated phenotypes. METHODS Mutation analysis in a cohort of patients in a single institute was conducted. Bioinformatics was performed for whole exome sequencing, and the variants were confirmed by Sanger sequencing. Clinical data and DNA samples were collected from...
متن کاملFamilial Exudative Vitreoretinopathy
Familial exudative vitreoretinopathy (FEVR) is a hereditary disease associated with visual loss, particularly in the pediatric group. Mutations in the NDP, FZD4, LRP5, and TSPAN12 genes have been shown to contribute to FEVR. FEVR has been reported to have X-linked recessive, autosomal dominant, and autosomal recessive inheritances. However, both the genotypic and phenotypic features are variabl...
متن کاملFamilial exudative vitreoretinopathy associated with familial thrombocytopathy.
Two families with familial exudative vitreoretinopathy were studied in which platelet aggregation defects were found in all the affected members. The major defect observed was absent platelet aggregation with arachidonic acid. In addition platelet aggregation with collagen and adrenaline was reduced in one severely affected member. The implication of the platelet aggregation defect in the patho...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2003
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5201093