Variable Familial Exudative Vitreoretinopathy in a family harbouring variants in both FZD4 and TSPAN12
نویسندگان
چکیده
منابع مشابه
Large 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...
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 کاملMutations in LRP5,FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy.
Purpose Familial exudative vitreoretinopathy (FEVR) is a severe hereditary retinal disorder characterized by defects in retinal vascular development. To date, six genes have been reported to be responsible for this disease, including LRP5, FZD4, TSPAN12, NDP, ZNF408, and KIF11. The purpose of our study was to investigate the genetic defects in Chinese patients with FEVR through mutational analy...
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 TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes
PURPOSE Mutations in tetraspanin 12 (TSPAN12) have recently been identified as a cause of autosomal dominant familial exudative vitreoretinopathy (FEVR). The purpose of this study was to detect TSPAN12 mutations in Chinese patients with FEVR and to describe the associated phenotypes. METHODS Sanger sequencing was used to analyze the seven coding exons and their adjacent regions of TSPAN12 in ...
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ژورنال
عنوان ژورنال: Acta Ophthalmologica
سال: 2017
ISSN: 1755-375X
DOI: 10.1111/aos.13411