Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka.

ABSTRACT: Pediatric cataract is an important cause of blindness and visual impairment in children. A large proportion of pediatric cataracts are inherited, and many genes have been described for this heterogeneous Mendelian disease. Surveys of schools for the blind in Bhutan, Cambodia, and Sri Lanka have identified many children with this condition and we aimed to identify the genetic causes of inherited cataract in these populations. We screened, in parallel, 51 causative genes for inherited cataracts in 33 probands by Ampliseq enrichment and sequencing on an Ion Torrent PGM. Rare novel protein coding variants were assessed for segregation in family members, where possible, by Sanger sequencing. We identified 24 rare (frequency <1% in public databases) or novel protein coding variants in 12 proband

SUBMITTER: Javadiyan S 

PROVIDER: S-EPMC6081222 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature