Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract.

ABSTRACT:

Purpose

Congenital cataracts occur in 3-4 per 10,000 live births and account for 5% to 20% of pediatric blindness worldwide. With more than 37 genes known to be associated with isolated congenital cataract, whole exome sequencing (WES) was recently introduced as an efficient method for screening all known factors.

Methods

Whole exome analysis in two members of a four-generation pedigree affected with dominant congenital cataract and glaucoma was performed by WES; co-segregation analysis of identified variants in all pedigree members was completed by Sanger sequencing.

Results

Analysis of the WES data identified a novel pathogenic variant in EPHA2, c.2925dupC, p.(Ile976Hisfs*37), that demonstrated complete cosegregation with the phenotype in the pedigree. The mutation

SUBMITTER: Reis LM 

PROVIDER: S-EPMC4057250 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature