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Article

A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family.

Human mutation - 1 Dec 2011

Yao Ke, Wang Wei, Zhu Yanan, Jin Chongfei, Shentu Xingchao, Jiang Jin, Zhang Yidong, Ni Shuang

Abstract excerpt

Congenital cataract (CC) is the leading cause of visual disability in children. To date, mutations in many genes have been linked to CC. In a four-generation Chinese family with congenital nuclear pulverulent and posterior polar cataracts, we detected a heterozygous c.5G>A transition in the second exon of GJA3, resulting in the substitution of a highly conserved glycine with aspartic acid (p.G2D) at the...

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Identifiers

PMID: 21681855
DOI: 10.1002/humu.21552

Genes

GJA3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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