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Identification of a <i style="mso-bidi-font-style: normal">GJA3</i> mutation in a Chinese family with congenital nuclear cataract using exome sequencing

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Title Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing
 
Creator Guo, Yi
Yuan, Lamei
Yi, Junhui
Xiao, Jingjing
Xu, Hongbo
Lv, Hongwei
Xiong, Wei
Zheng, Wen
Guan, Liping
Zhang, Jianguo
Xiang, Hong
Qi, Yong
Deng, Hao
 
Subject Congenital nuclear cataract
GJA3 gene
Gap junction
p.D47N
Mutation
Exome sequencing
 
Description 253-258
Congenital cataract, a clinically and
genetically heterogeneous lens disorder is defined as any opacity of the lens presented from birth and is responsible for approximately 10% of worldwide
childhood poor vision or blindness. To identify the genetic defect responsible for congenital nuclear
cataract in a four-generation Chinese Han family,
exome and direct Sanger sequencings were conducted and a missense variant c.139G>A (p.D47N) in the gap junction
protein-alpha 3 gene (GJA3) was
identified. The variant co-segregated with patients of the family and was not
observed in unaffected family members or normal controls. The above findings
indicated that the variant was a pathogenic mutation. The mutation p.D47N was
found in the first extracellular
loop (E1) domain of GJA3 protein. Our data suggest that exome sequencing is a powerful tool to discover mutation(s) in cataract, a disorder with high genetic heterogeneity. Our findings may also provide new insights into the cause and diagnosis of
congenital nuclear cataract and have implications for genetic counseling.
 
Date 2013-09-01T12:58:09Z
2013-09-01T12:58:09Z
2013-08
 
Type Article
 
Identifier 0975-0959 (Online); 0301-1208 (Print)
http://hdl.handle.net/123456789/20872
 
Language en_US
 
Rights CC Attribution-Noncommercial-No Derivative Works 2.5 India
 
Publisher NISCAIR-CSIR, India
 
Source IJBB Vol.50(4) [August 2013]