A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree

作者：Ding, Xuchen; Wang, Binbin; Luo, Yongfeng; Hu, Shanshan; Zhou, Guangkai; Zhou, Zhou; Wang, Jing; Ma, Xu; Qi, Yanhua^*

来源：Molecular Vision, 2011, 17(151): 1343-1349.

• NUCLEAR PULVERULENT CATARACT
• POSTERIOR POLAR CATARACT
• MISSENSE MUTATION
• CRYSTALLIN GENE
• JUVENILE-ONSET
• NONSENSE MUTATION
• FAMILY
• LENS
• DOMAIN
• COMMUNICATION

Purpose: To identify the potential pathogenic mutation in a three-generation Chinese family with congenital nuclear pulverulent cataracts.
Methods: A three-generation pedigree was recruited for our study. Three patients and four healthy members of the family underwent a comprehensive clinical examination. Genomic DNA extracted from peripheral blood was amplified using the polymerase chain reaction (PCR) method and the exons of all candidate genes were sequenced.
Results: When sequencing the encoding regions of the candidate genes, a novel mutation (c.559C>T) was identified in the gap junction protein alpha 3 (GJA3) gene, which resulted in the substitution of highly conserved proline by serine at codon 187 (P187S). There was no noticeable nucleotide polymorphism in other candidate genes. The mutation co-segregated with all patients, but was absent in the healthy members and 100 normal individuals.
Conclusions: The present study identified a novel mutation (c.559C>T) in the GJA3 gene associated with autosomal dominant pulverulent cataracts in a Chinese family. As the first report to relate p. P187S mutation in GJA3, it expands the mutation spectrum of GJA3 in association with congenital cataracts.

• 出版日期2011-5-20
• 单位国家卫生计生委科学技术研究所; 哈尔滨医科大学