Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy.

ABSTRACT:

Purpose

To investigate the clinical features and disease-causing mutations in two Chinese families with familial exudative vitreoretinopathy (FEVR).

Methods

Clinical data and genomic DNA were collected for patients with FEVR. The coding exons and adjacent intronic regions of FZD4, LRP5, TSPAN12, and NDP were amplified with PCR, and the resulting amplicons were analyzed with Sanger sequencing. Wild-type and mutant LRP5 proteins were assayed for the Norrin/β-catenin pathway by luciferase reporter assays.

Results

Two novel heterozygous mutations in the LRP5 gene were identified in two relatives--p.A422T and p.L540P. Typical FEVR fundus change and mild reduced bone mineral density (BMD) was found in the two patients and the affected parent. In the luciferase studies, both

SUBMITTER: Fei P 

PROVIDER: S-EPMC3976684 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature