Journal article

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy

C Toomes, HM Bottomley, S Scott, DA Mackey, JE Craig, B Appukuttan, JT Stout, CJ Flaxel, K Zhang, GCM Black, A Fryer, LM Downey, CF Inglehearn

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | ASSOC RESEARCH VISION OPHTHALMOLOGY INC | Published : 2004

Abstract

PURPOSE: Mutations in the frizzled-4 gene (FZD4) have recently been associated with autosomal dominant familial exudative vitreoretinopathy (FEVR) in families linking to the EVR1 locus on the long arm of chromosome 11. The purpose of this study was to screen FZD4 in a panel of 40 patients with FEVR to identify the types and location of mutations and to calculate what proportion of this heterogeneous condition is attributable to FZD4 mutations. METHODS: PCR products were generated from genomic DNA with primers designed to amplify the coding sequence of FZD4. The PCR products were screened for mutations by single-strand conformational polymorphism-heteroduplex analysis (SSCP-HA) and by direct ..

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