A novel splice donor site mutation in EPHA2 caused congenital cataract in a Chinese family.

ABSTRACT:

Background

Congenital cataract is a rare disorder characterized by crystallin denaturation, which becomes a major cause of childhood blindness. Although more than fifty pathogenic genes for congenital cataract have been reported, the genetic causes of many cataract patients remain unknown. In this study, the aim is to identify the genetic cause of a five-generation Chinese autosomal dominant congenital cataract family.

Methods

Whole exome sequencing (WES) was performed on three affected and one unaffected member of the family, known causative genes were scanned first. Sanger sequencing was used to validate co-segregation of the candidate variant in the family. The impact on the transcript and amino acid sequences of the variant was further analyzed.

Results

We identif

SUBMITTER: Bu J 

PROVIDER: S-EPMC4966373 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature