Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes.

ABSTRACT:

Purpose

Mutations in tetraspanin 12 (TSPAN12) have recently been identified as a cause of autosomal dominant familial exudative vitreoretinopathy (FEVR). The purpose of this study was to detect TSPAN12 mutations in Chinese patients with FEVR and to describe the associated phenotypes.

Methods

Sanger sequencing was used to analyze the seven coding exons and their adjacent regions of TSPAN12 in 49 unrelated FEVR patients. Clinical phenotypes of the patients with TSPAN12 mutations were documented.

Results

Three novel heterozygous mutations in TSPAN12 were identified in three patients from unrelated families: c.146C>T (p.Thr49Met), c.313T>C (p.Cys105Arg), and c.601delC (p.Leu201PhefsX14). All three mutations involved highly conserved residues and were not present in 180 no

SUBMITTER: Yang H 

PROVIDER: S-EPMC3087453 | biostudies-literature | 2011 Apr

REPOSITORIES: biostudies-literature