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

被引：11
|
作者：
Siggs, Owen M. [1 ]
Javadiyan, Shari [1 ]
Sharma, Shiwani [1 ]
Souzeau, Emmanuelle [1 ]
Lower, Karen M. [2 ]
Taranath, Deepa A. [1 ]
Black, Jo [3 ]
Pater, John [1 ,3 ]
Willoughby, John G. [1 ]
Burdon, Kathryn P. [4 ]
Craig, Jamie E. [1 ]
机构：
[1] Flinders Univ S Australia, Dept Ophthalmol, Flinders Med Ctr, 1 Flinders Dr, Bedford Pk, SA 5042, Australia
[2] Flinders Univ S Australia, Dept Haematol & Genet Pathol, Bedford Pk, SA, Australia
[3] Womens & Childrens Hosp, Dept Ophthalmol, Adelaide, SA, Australia
[4] Univ Tasmania, Menzies Inst Med Res, 17 Liverpool St,Private Bag 23, Hobart, Tas 7000, Australia
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2017年 / 25卷 / 06期
基金：
澳大利亚国家健康与医学研究理事会; 英国医学研究理事会;
关键词：
COPY NUMBER VARIATIONS; NONSENSE MUTATION; GENE; MICROCORNEA; GLAUCOMA; DANISH; CRYBA4;
D O I：
10.1038/ejhg.2017.33
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
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.
引用
收藏
页码：711 / 718
页数：8
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