Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.

ABSTRACT:

Background

Cataract is a major cause of childhood blindness worldwide. The purpose of this study was to determine the genetic cause of paediatric cataract in a South Australian family with a bilateral lamellar paediatric cataract displaying variable phenotypes.

Case presentation

Fifty-one genes implicated in congenital cataract in human or mouse were sequenced in an affected individual from an Australian (Caucasian) family using a custom Ampliseq library on the Ion Torrent Personal Genome Machine. Reads were mapped against the human genome (hg19) and variants called with the Torrent Suite software. Variants were annotated to dbSNP 137 using Ion Reporter (IR 1.6.2) and were prioritised for validation if they were novel or rare and were predicted to be protein changing. We ide

SUBMITTER: Javadiyan S 

PROVIDER: S-EPMC4750205 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature