Ontology highlight
ABSTRACT:
SUBMITTER: Siggs OM
PROVIDER: S-EPMC5477362 | biostudies-literature | 2017 Jun
REPOSITORIES: biostudies-literature
Siggs Owen M OM Javadiyan Shari S Sharma Shiwani S Souzeau Emmanuelle E Lower Karen M KM Taranath Deepa A DA Black Jo J Pater John J Willoughby John G JG Burdon Kathryn P KP Craig Jamie E JE
European journal of human genetics : EJHG 20170308 6
Congenital cataract is a rare but severe paediatric visual impediment, often caused by variants in one of several crystallin genes that produce the bulk of structural proteins in the lens. Here we describe a pedigree with autosomal dominant isolated congenital cataract and linkage to the crystallin gene cluster on chromosome 22. No rare single nucleotide variants or short indels were identified by exome sequencing, yet copy number variant analysis revealed a duplication spanning both CRYBB1 and ...[more]