KIF11mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy
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چکیده
منابع مشابه
KIF11 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 کاملAutosomal 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 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 کاملLarge Deletions of TSPAN12 Cause Familial Exudative Vitreoretinopathy (FEVR).
Purpose Familial exudative vitreoretinopathy (FEVR) is a rare, hereditary visual disorder. The gene TSPAN12 is associated with autosomal dominant inheritance of FEVR. The prevalence and impact of large deletions/duplications of TSPAN12 on FEVR patients is unknown. To glean better insight of TSPAN12 on FEVR pathology, herein, we describe three FEVR patients with TSPAN12 deletions. Methods Thir...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 2015
ISSN: 0007-1161,1468-2079
DOI: 10.1136/bjophthalmol-2015-306878