ArticleScientific reports2015
Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 17 citations in OpenAlex.
- Frizzled receptors: gatekeepers of Wnt signaling in development and disease.Frontiers in cell and developmental biology · 2025Review
- A novel frameshift variant in the TSPAN12 gene causes autosomal dominant FEVR.Molecular genetics & genomic medicine · 2022Article
- Whole exome sequencing revealed 14 variants in NDP, FZD4, LRP5, and TSPAN12 genes for 20 families with familial exudative vitreoretinopathy.BMC medical genomics · 2022Article
- Decrease ofFrontiers in medicine · 2022Article
- Norrin restores blood-retinal barrier properties after vascular endothelial growth factor-induced permeability.The Journal of biological chemistry · 2020Article
- Characterization of a novel pathogenic variation c.1237T>G in the FZD4 gene presenting new inheritance from an Iranian individual suffering vitreoretinopathy.Intractable & rare diseases research · 2020Article
- Role ofBioMed research international · 2020Article
- Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/Journal of ophthalmology · 2019Review
- Variable reduction in Norrin signaling activity caused by novel mutations inMolecular vision · 2019Article
- Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease.Molecular genetics & genomic medicine · 2019Article
- Novel mutations in FZD4 and phenotype-genotype correlation in Chinese patients with familial exudative vitreoretinopathy.Molecular vision · 2016Article
Corrections and comments
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Authors and funding
14 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 study the effects of identified mutations on FZD4 function. All coding exons and adjacent intronic regions of FZD4 were amplified by polymerase chain reaction and subjected to Sanger sequencing analysis. Three mutations in the FZD4 gene were identified in these families. Of these, two were novel mutations: p.E134* and p.T503fs. Both mutations involve highly conserved residues and were not present in 800 normal individuals. Each of these two novel FZD4 mutations was introduced into wild-type FZD4 cDNA by site-directed mutagenesis. Wild-type and mutant FZD4 DNAs were introduced into HEK293 cells to analyse the function of FZD4 in Norrin-dependent activation of the Norrin/β-catenin pathway using luciferase reporter assays. Both the p.E134* and p.T503fs mutants failed to induce luciferase reporter activity in response to Norrin. Our study identified two novel FZD4 mutations in Chinese patients with FEVR.
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