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缝隙连接蛋白α8（GJA8）基因突变会导致常染色体隐性白内障。

Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract.

作者信息

Ponnam Surya Prakash G, Ramesha Kekunnaya, Tejwani Sushma, Ramamurthy Balasubramanya, Kannabiran Chitra

机构信息

Kallam Anji Reddy Molecular Genetics Laboratory, L.V. Prasad Eye Institute, Road No.2, Banjara Hills, Hyderabad 500 034, India.

出版信息

J Med Genet. 2007 Jul;44(7):e85. doi: 10.1136/jmg.2007.050138.

DOI:10.1136/jmg.2007.050138
PMID:17601931
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2598012/
Abstract

BACKGROUND

GJA8 encodes connexin-50, a gap junction protein in the eye lens. Mutations in GJA8 have been reported in families with autosomal dominant cataract.

OBJECTIVE

To identify the disease gene in a family with congenital cataract of autosomal recessive inheritance.

METHODS

Eight candidate genes were screened for pathogenic alterations in affected and unaffected family members and in normal unrelated controls.

RESULTS

A single base insertion leading to frameshift at codon 203 of connexin 50 was found to co-segregate with disease in the family.

CONCLUSIONS

These results confirm involvement of GJA8 in autosomal recessive cataract.

摘要

背景

GJA8基因编码连接蛋白50，这是一种晶状体中的间隙连接蛋白。在常染色体显性白内障家族中已报道了GJA8基因的突变。

目的

鉴定一个常染色体隐性遗传先天性白内障家族中的致病基因。

方法

对8个候选基因进行筛查，以寻找患病和未患病家族成员以及正常无关对照中的致病改变。

结果

发现在连接蛋白50的第203密码子处有一个单碱基插入导致移码，该突变在家族中与疾病共分离。

结论

这些结果证实GJA8基因与常染色体隐性白内障有关。

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J Med Genet. 2007 Jul;44(7):e85. doi: 10.1136/jmg.2007.050138.
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本文引用的文献

1
Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.与BFSP1基因突变相关的常染色体隐性青少年型白内障。
Hum Genet. 2007 May;121(3-4):475-82. doi: 10.1007/s00439-006-0319-6. Epub 2007 Jan 16.
2
A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin.在一个印度裔家族中，与常染色体显性先天性白内障相关的GJA8基因新突变。
Mol Vis. 2006 Oct 18;12:1217-22.
3
Functional characterization of a naturally occurring Cx50 truncation.一种天然存在的Cx50截短形式的功能特性
Invest Ophthalmol Vis Sci. 2006 Oct;47(10):4474-81. doi: 10.1167/iovs.05-1582.
4
Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.与常染色体显性先天性白内障和小角膜相关的GJA8新突变。
Mol Vis. 2006 Mar 23;12:190-5.
5
A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract.一种新的GJA8突变与常染色体显性板层粉状白内障相关：人类白内障中缝隙连接功能障碍的进一步证据。
J Med Genet. 2006 Jan;43(1):e2. doi: 10.1136/jmg.2005.034108.
6
An aberrant sequence in a connexin46 mutant underlies congenital cataracts.连接蛋白46突变体中的异常序列是先天性白内障的基础。
J Biol Chem. 2005 Dec 9;280(49):40788-95. doi: 10.1074/jbc.M504765200. Epub 2005 Oct 3.
7
Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families.与两个巴基斯坦家族常染色体隐性白内障相关的βB3-晶状体蛋白突变。
Invest Ophthalmol Vis Sci. 2005 Jun;46(6):2100-6. doi: 10.1167/iovs.04-1481.
8
A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract.HSF4基因中的纯合剪接突变与常染色体隐性先天性白内障相关。
Invest Ophthalmol Vis Sci. 2004 Aug;45(8):2716-21. doi: 10.1167/iovs.03-1370.
9
A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts.氨基葡萄糖基（N-乙酰）转移酶2基因（GCNT2）中的无义突变：与常染色体隐性先天性白内障的关联。
Invest Ophthalmol Vis Sci. 2004 Jun;45(6):1940-5. doi: 10.1167/iovs.03-1117.
10
A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.一个患有进行性常染色体显性先天性核性白内障的伊朗家庭中的一种新型GJA8突变。
J Med Genet. 2003 Nov;40(11):e124. doi: 10.1136/jmg.40.11.e124.