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Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract
journal contribution
posted on 2023-05-19, 06:44 authored by Siggs, OM, Javadiyan, S, Sharma, S, Souzeau, E, Lower, KM, Taranath, DA, Black, J, Pater, J, Willoughby, JG, Kathryn BurdonKathryn Burdon, Craig, JECongenital 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.
History
Publication title
European Journal of Human GeneticsVolume
25Issue
6Pagination
711-718ISSN
1018-4813Department/School
Menzies Institute for Medical ResearchPublisher
Nature Publishing GroupPlace of publication
Macmillan Building, 4 Crinan St, London, England, N1 9XwRights statement
Copyright 2017 Macmillan Publishers Limited, part of Springer Nature.Repository Status
- Restricted