Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy
نویسندگان
چکیده
منابع مشابه
Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy.
PURPOSE To search for mutations in the Norrie disease gene (NDP) in Japanese patients with familial exudative vitreoretinopathy (FEVR) and Norrie disease (ND) and to delineate the mutation-associated clinical features. METHODS Direct sequencing after polymerase chain reaction of all exons of the NDP gene was performed on blood collected from 62 probands (31 familial and 31 simplex) with FEVR,...
متن کاملNovel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy
PURPOSE Familial exudative vitreoretinopathy (FEVR) is a group of inherited blinding eye diseases characterized by defects in the development of the retinal vessels. Recent studies have identified genetic variants in tetraspanin 12 (TSPAN12) as a cause of FEVR. The purpose of this study was to identify novel TSPAN12 mutations in Chinese patients with FEVR and to describe the associated phenotyp...
متن کاملNovel frizzled-4 gene mutations in chinese patients with familial exudative vitreoretinopathy.
OBJECTIVES To search for mutations in the Frizzled-4 gene (FZD4) in Chinese patients with familial exudative vitreoretinopathy (FEVR) and to delineate the mutation-associated clinical features. METHODS Forty-eight Chinese patients with FEVR and 100 unrelated control subjects were recruited and had complete ophthalmic examinations performed. The coding regions of FZD4 were screened for mutatio...
متن کاملNovel mutations in FZD4 and phenotype–genotype correlation in Chinese patients with familial exudative vitreoretinopathy
PURPOSE To identify novel mutations in the frizzled 4 (FZD4) gene in patients with familial exudative vitreoretinopathy (FEVR) in southern China and to delineate the mutation-associated clinical manifestations. METHODS Clinical data and genomic DNA were collected from 100 probands and their family members. The coding regions of FZD4 were screened for mutations with PCR and Sanger sequencing. ...
متن کاملIdentification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy
Familial exudative vitreoretinopathy (FEVR) is a hereditary eye disease characterized by defects in the development of retinal vessels. However, known genetic mutations can only explain approximately 50% of FEVR patients. To assess the mutation frequency of Frizzled 4 (FZD4) in Chinese patients, we analysed patients with FEVR from 61 families from China to identify mutations in FZD4 and to stud...
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ژورنال
عنوان ژورنال: BMC Ophthalmology
سال: 2021
ISSN: 1471-2415
DOI: 10.1186/s12886-021-01852-3