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Abstract

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 CRYBA4. While the CRYBA4 duplication was complete, the CRYBB1 duplication was not, with the duplicated CRYBB1 product predicted to create a gain of function allele. This association suggests a new genetic mechanism for the development of isolated congenital cataract.

Item Type:	Article
Authors/Creators:	Siggs, OM and Javadiyan, S and Sharma, Shiwani and Souzeau, E and Lower, KM and Taranath, DA and Black, J and Pater, J and Willoughby, JG and Burdon, KP and Craig, JE
Keywords:	cataract, genetics, paediatric
Journal or Publication Title:	European Journal of Human Genetics
Publisher:	Nature Publishing Group
ISSN:	1018-4813
DOI / ID Number:	10.1038/ejhg.2017.33
Copyright Information:	Copyright 2017 Macmillan Publishers Limited, part of Springer Nature.
Related URLs:	Google Scholar: Burdon, KP UTAS Profile: Burdon, KP
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