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

Owen Siggs, Shari Javadiyan, Shiwani Sharma, Emmanuelle Souzeau, Karen Lower, Deepa Taranath, Jo Black, John Pater, John Willoughby, Kathryn Burdon, Jamie Craig

    Research output: Contribution to journalArticle

    9 Citations (Scopus)

    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.

    Original languageEnglish
    Pages (from-to)711-718
    Number of pages8
    JournalEuropean Journal of Human Genetics
    Volume25
    Issue number6
    DOIs
    Publication statusPublished - 2017

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