The identification and characterization of the p.G91 deletion in CRYBA1 in a Chinese family with congenital cataracts.

ABSTRACT:

Background

Mutations in more than 52 genes have been identified in isolated congenital cataracts, the majority of which are located in crystalline and connexin (gap junction) genes. An in-frame one amino acid deletion in the beta-crystalline gene CRYBA1 has been reported in several different Chinese, Caucasian and Iranian families of congenital cataracts. Further functional studies are needed to confirm the variant pathogenicity.

Methods

The purpose of this study is to identify the genetic causes that contribute to congenital cataracts with esotropia and nystagmus in a Chinese family. Whole-exome sequencing was performed on samples from all five family members. The two brothers of the father and their daughters were then enrolled in the study, and 40 suspected variants were

SUBMITTER: Li D 

PROVIDER: S-EPMC6727356 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature