TY - JOUR T1 - Partial duplication of the <em>CRYBB1-CRYBA4</em> locus is associated with autosomal dominant congenital cataract JF - bioRxiv DO - 10.1101/042515 SP - 042515 AU - Owen M. Siggs AU - Shari Javadiyan AU - Shiwani Sharma AU - Emmanuelle Souzeau AU - Karen M. Lower AU - Deepa A. Taranath AU - Jo Black AU - John Pater AU - John G. Willoughby AU - Kathryn P. Burdon AU - Jamie E. Craig Y1 - 2017/01/01 UR - http://biorxiv.org/content/early/2017/02/05/042515.abstract N2 - 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 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 whole-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.Grant information Supported by the National Health and Medical Research CouncilConflict of interest the authors declare no conflict of interest. ER -