Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy.

ABSTRACT:

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 polymerase chain reaction, and the resulting amplicons were analyzed with Sanger sequencing.

Results

Eleven mutations were detected in 11 of the 49 families (22.4%), including five mutations in the FZD4 gene in six families and six mutations in the LRP5 gene in five families. Of the 11 mutations, eight were novel. Two families had the same FZD4 mutation, and one family had compound hete

SUBMITTER: Yang H 

PROVIDER: S-EPMC3472927 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature