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Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract


Siggs, OM and Javadiyan, S and Sharma, S and Souzeau, E and Lower, KM and Taranath, DA and Black, J and Pater, J and Willoughby, JG and Burdon, KP and Craig, JE, Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract, European Journal of Human Genetics, 25, (6) pp. 711-718. ISSN 1018-4813 (2017) [Refereed Article]

Copyright Statement

Copyright 2017 Macmillan Publishers Limited, part of Springer Nature.

DOI: doi:10.1038/ejhg.2017.33


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 Details

Item Type:Refereed Article
Keywords:cataract, genetics, paediatric
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
ID Code:117998
Year Published:2017
Web of Science® Times Cited:9
Deposited By:Menzies Institute for Medical Research
Deposited On:2017-06-30
Last Modified:2018-06-06

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