A novel truncation mutation in CRYBB1 associated with autosomal dominant congenital cataract with nystagmus.

ABSTRACT:

Purpose

To identify the potential candidate genes for a large Chinese family with autosomal dominant congenital cataract (ADCC) and nystagmus, and investigate the possible molecular mechanism underlying the role of the candidate genes in cataractogenesis.

Methods

We combined the linkage analysis and direct sequencing for the candidate genes in the linkage regions to identify the causative mutation. The molecular and bio-functional properties of the proteins encoded by the candidate genes was further explored with biophysical and biochemical studies of the recombinant wild-type and mutant proteins.

Results

We identified a c. C749T (p.Q227X) transversion in exon 6 of CRYBB1, a cataract-causative gene. This nonsense mutation changes a phylogenetically conserved gl

SUBMITTER: Rao Y 

PROVIDER: S-EPMC5595272 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature