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
相关论文
共 50 条
  • [41] A Novel HSF4 Mutation in a Chinese Family with Autosomal Dominant Congenital Cataract
    Liu, Ling
    Zhang, Qing
    Zhou, Lu-xin
    Tang, Zhao-hui
    JOURNAL OF HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY-MEDICAL SCIENCES, 2015, 35 (02) : 316 - 318
  • [42] A novel HSF4 mutation in a Chinese family with autosomal dominant congenital cataract
    Ling Liu
    Qing Zhang
    Lu-xin Zhou
    Zhao-hui Tang
    Journal of Huazhong University of Science and Technology [Medical Sciences], 2015, 35 : 316 - 318
  • [43] A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree
    Gu, Zhensheng
    Ji, Baohu
    Wan, Chunling
    He, Guang
    Zhang, Juan
    Zhang, Ming
    Feng, Guoyin
    He, Lin
    Gao, Linghan
    MOLECULAR VISION, 2010, 16 (19-20): : 154 - 160
  • [44] A new locus for autosomal dominant congenital coronary cataract in a Chinese family maps to chromosome 3q
    Liu, Guishun
    Li, Yunbo
    Ruan, Yanfei
    Cao, Wenping
    Xin, Li
    Qian, Jiangyuan
    Gu, Jingzhi
    MOLECULAR VISION, 2010, 16 (96-98): : 874 - 879
  • [45] Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population
    Devi, R
    Reena, C
    Vijayalakshmi, P
    MOLECULAR VISION, 2005, 11 (100-1): : 846 - 852
  • [46] A family with autosomal dominant primary congenital cataract associated with a CRYGC mutation:: evidence of clinical heterogeneity
    Gonzalez-Huerta, Luz M.
    Messina-Baas, Olga M.
    Cuevas-Covarrubias, Sergio A.
    MOLECULAR VISION, 2007, 13 (145-46): : 1333 - 1338
  • [47] Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families
    Santana, Alessandro
    Waiswol, Mauro
    Arcieri, Enyr Saran
    Cabral de Vasconcellos, Jose Paulo
    de Melo, Monica Barbosa
    MOLECULAR VISION, 2009, 15 (79-81): : 793 - 800
  • [48] AUTOSOMAL DOMINANT CONGENITAL CATARACT AND MICROPHTHALMIA ASSOCIATED WITH A FAMILIAL T(2-16) TRANSLOCATION
    YOKOYAMA, Y
    NARAHARA, K
    TSUJI, K
    NINOMIYA, S
    SEINO, Y
    HUMAN GENETICS, 1992, 90 (1-2) : 177 - 178
  • [49] A novel mutation in γD-crystallin associated with autosomal dominant congenital cataract in a Chinese family
    Wang, Li
    Chen, Xueli
    Lu, Yi
    Wu, Jihong
    Yang, Boqi
    Sun, Xinghuai
    MOLECULAR VISION, 2011, 17 (91-92): : 804 - 809
  • [50] Expanding the Phenotype of Autosomal Dominant Leukcodystrophy Associated with LMNB1 Duplication
    Toro, Camilo
    Ziegler, Shira G.
    Vanderver, Adeline L.
    Groden, Catherine
    Blair, Cecile D.
    Cao, Kan
    Carlson-Donohoe, Hannah E.
    Simeonov, Dimitre R.
    Erdoz, Michael R.
    Collins, Francis S.
    Gahl, William A.
    ANNALS OF NEUROLOGY, 2010, 68 (04) : S69 - S69
12345