Novel mutation of GJA8 in autosomal dominant congenital cataracts.

ABSTRACT:

Background

Congenital cataracts is the most common cause of childhood visual impairment and blindness worldwide. It is reported that about one quarter of congenital cataracts caused by genetic defects. Various gene mutations have been identified in hereditary cataracts so far. The purpose of the present study was to investigate the relationship between gap junction protein alpha 8 (GJA8) gene mutation and congenital cataract.

Methods

A pedigree with autosomal dominant congenital cataract was investigated and the peripheral venous blood was extracted from 18 family members. After the high-throughput targeted capture and whole exome sequencing for the proband, bioinformatics analysis was performed. By combining the proband clinical symptoms, candidate variations were el

SUBMITTER: Ding N 

PROVIDER: S-EPMC7576067 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature