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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.

Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy