Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy
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چکیده
منابع مشابه
Identification 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...
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 of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy.
PURPOSE To identify novel mutations in FZD4 gene that cause familial exudative vitreoretinopathy (FEVR) in Indian patients. METHODS The study was conducted on 75 subjects from 53 Indian families. These families were clinically diagnosed to have FEVR by fundus examination and fluorescein angiography. The candidate gene FZD4 was amplified from genomic DNA and PCR products were screened for muta...
متن کاملIdentification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy
PURPOSE To identify mutations in FZD4 and LRP5 in 49 Chinese families with familial exudative vitreoretinopathy (FEVR) and to reveal the mutation spectrum and frequency of these genes in the Chinese population. METHODS Clinical data and genomic DNA were collected for patients from 49 families with FEVR. The coding exons and adjacent intronic regions of FZD4 and LRP5 were amplified with polyme...
متن کاملIdentification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis
KIF11 gene mutations cause a rare autosomal dominant inheritable disease called microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR). Recently, such mutations were also found to be associated with familial exudative vitreoretinopathy (FEVR). Here, we report 7 novel KIF11 mutations identified by targeted gene capture in a cohort of 142 probands with FEVR who ...
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ژورنال
عنوان ژورنال: Scientific Reports
سال: 2015
ISSN: 2045-2322
DOI: 10.1038/srep16120