title: Identification of a novel mutation of the gene for gap junction protein α3 (GJA3) in a Chinese family with congenital cataract.
abstract: Cataract, defined as any opacity of the crystallin lens, can be divided into early onset (congenital or infantile) and age-related. It is the leading cause of visual disability in children, and mutations in many genes have currently been linked with this disorder. In the present study, we identified a genetic defect in a Chinese family with congenital cataract. Genomic DNA was extracted from the venous blood of the family and 100 normal controls. To screen for the disease-causing mutation, we sequenced eight candidate genes, and to predict the functional consequences of the mutation, a structural model of the protein was developed using the Protein Data Bank and PyMOL 1.1r1. We found a novel variant (c.163 A > G transition) in the gene for gap junction protein α3, or the connexin46 gene. This mutation resulted in the substitution of a highly conserved asparagine at codon 55 by aspartic acid (p.N55D). There were no nucleotide polymorphisms in the other candidate genes sequenced.
authors.affiliation: Department of Ophthalmology, the 2nd Affiliated Hospital of Harbin Medical University, 246 XuefuRoad, Harbin, 150086, Heilongjiang, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Hu
authors.forename: Lin
authors.initials: L
authors.lastname: Gao
authors.forename: Yali
authors.initials: Y
authors.lastname: Feng
authors.forename: Tao
authors.initials: T
authors.lastname: Yang
authors.forename: Shangzhi
authors.initials: S
authors.lastname: Huang
authors.forename: Zhengbo
authors.initials: Z
authors.lastname: Shao
authors.forename: Huiping
authors.initials: H
authors.lastname: Yuan
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D016022:Case-Control Studies; D002386:Cataract / Q000151:congenital / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D007438:Introns; D008297:Male; D008875:Middle Aged; D008958:Models, Molecular; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D016415:Sequence Alignment
chemical_list: D017630:Connexins; C082917:GJA3 protein, human
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