Novel Frizzled-4 Gene Mutations in Chinese Patients With Familial Exudative Vitreoretinopathy
نویسندگان
چکیده
منابع مشابه
Novel 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 کاملFrizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.
AIMS To search for mutations in the frizzled 4 (FZD4) gene in patients with familial exudative vitreoretinopathy (FEVR) and to delineate the defective gene associated clinical features. METHODS Direct sequencing following polymerase chain reaction of exons of FZD4 was performed for 24 probands with FEVR (18 familial and six sporadic), and some of their families. Clinical symptoms among indivi...
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 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 کاملNovel 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,...
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ژورنال
عنوان ژورنال: Archives of Ophthalmology
سال: 2010
ISSN: 0003-9950
DOI: 10.1001/archophthalmol.2010.240