Novel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.

ABSTRACT:

Purpose

Familial exudative vitreoretinopathy (FEVR) is a group of inherited blinding eye diseases characterized by defects in the development of the retinal vessels. Recent studies have identified genetic variants in tetraspanin 12 (TSPAN12) as a cause of FEVR. The purpose of this study was to identify novel TSPAN12 mutations in Chinese patients with FEVR and to describe the associated phenotypes.

Methods

Mutation screening was performed by directly sequencing PCR products of genomic DNA with primers designed to amplify the seven coding exons and adjacent intronic regions of the FEVR-causing gene TSPAN12. Clinical phenotypes of the patients with TSPAN12 mutations were documented. Wild-type and mutant TSPAN12 proteins were assayed for the Norrin-β-catenin signaling pathway wi

SUBMITTER: Xu Y 

PROVIDER: S-EPMC4169774 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature