Mutation Screening in FZD4 and LRP5 in Familial Exudative Vitreoretinopathy Patients

Abstract

Purpose: : Mutations in LRP5 are responsible for autosomal dominant and recessive familial exudative vitreoretinopathy (FEVR) and mutations in FZD4 are responsible for autosomal dominant FEVR. The purpose of this study was to screen these genes in a panel of FEVR patients to identify the frequency and spectrum of mutations in FEVR

Methods: : PCR products were generated from genomic DNA with primers designed to amplify the coding sequence of the genes and flanking intronic sequences. The PCR products were screened by direct sequencing using an ABI 3130xl DNA analyser.

Results: : To date, in a panel of one hundred patients, we have identified a total of forty mutations. Sixteen mutations were identified in FZD4 and twenty-four mutations were identified in LRP5.

Conclusions: : We have screened a panel of FEVR patients for mutations in the FZD4 and LRP5 genes. Our initial results suggest that mutations in these two genes are responsible for at least 40% of FEVR cases. This finding suggests that new FEVR genes remain to be identified.

Keywords: mutations • retinal degenerations: hereditary • genetics