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Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract
Citation
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.
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.
Item Details
| Item Type: | Refereed Article |
|---|---|
| Keywords: | cataract, genetics, paediatric |
| Research Division: | Medical and Health Sciences |
| Research Group: | Ophthalmology and Optometry |
| Research Field: | Ophthalmology |
| Objective Division: | Health |
| Objective Group: | Clinical Health (Organs, Diseases and Abnormal Conditions) |
| Objective Field: | Hearing, Vision, Speech and Their Disorders |
| UTAS Author: | Burdon, KP (Professor Kathryn Burdon) |
| ID Code: | 117998 |
| Year Published: | 2017 |
| Web of Science® Times Cited: | 7 |
| Deposited By: | Menzies Institute for Medical Research |
| Deposited On: | 2017-06-30 |
| Last Modified: | 2018-06-06 |
| Downloads: | 0 |
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