RT Journal Article SR Electronic T1 Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract JF bioRxiv FD Cold Spring Harbor Laboratory SP 042515 DO 10.1101/042515 A1 Owen M. Siggs A1 Shari Javadiyan A1 Shiwani Sharma A1 Emmanuelle Souzeau A1 Karen M. Lower A1 Deepa A. Taranath A1 Jo Black A1 John Pater A1 John G. Willoughby A1 Kathryn P. Burdon A1 Jamie E. Craig YR 2017 UL http://biorxiv.org/content/early/2017/02/05/042515.abstract AB 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.