Further evidence for P59L mutation in GJA3 associated with autosomal dominant congenital cataract.
BACKGROUND
Congenital cataracts are one of the common eye disorders leading to visual impairment or blindness in children worldwide. We found a Chinese family with autosomal dominant pulverulent cataract.


OBJECTIVE
To identify the pathogenic gene mutation in a Chinese family with autosomal dominant inherited pulverulent cataract.


METHODS
After obtained informed consent, detailed ophthalmic examinations were carried out; genomic DNAs were obtained from seven family members in a three-generation Chinese family with three affected. All exons of candidate genes were amplified by polymerase chain reaction and were sequenced performed by bidirectional sequencing.


RESULTS
By sequencing the encoding regions of the candidate genes, a missense mutation (c. 176C>T) was detected in gap junction protein alpha 3 genes (GJA3), which resulted in the substitution of highly conserved proline by leucine at codon 59 (p.P59L). The mutation co-segregated with all patients and was absent in 100 normal Chinese controls.


CONCLUSIONS
The study identified a missense mutation (c. 176C>T) in GJA3 gene associated with autosomal dominant congenital pulverulent cataract in a Chinese family. It gave further evidence of phenotype heterogeneity for P59L mutation in GJA3 associated with congenital cataract.
Department of Ophthalmology; Shanghai Key Laboratory of Visual Impairment and Restoration; Key Laboratory of Myopia, Ministry of Health, Eye and ENT Hospital of Fudan University, Shanghai, China.
Li
L
Wang
Department of Ophthalmology; Shanghai Key Laboratory of Visual Impairment and Restoration; Key Laboratory of Myopia, Ministry of Health, Eye and ENT Hospital of Fudan University, Shanghai, China.
Yuhong
Y
Chen
Department of Ophthalmology; Shanghai Key Laboratory of Visual Impairment and Restoration; Key Laboratory of Myopia, Ministry of Health, Eye and ENT Hospital of Fudan University, Shanghai, China.
Xueli
X
Chen
Department of Ophthalmology; Shanghai Key Laboratory of Visual Impairment and Restoration; Key Laboratory of Myopia, Ministry of Health, Eye and ENT Hospital of Fudan University, Shanghai, China.
Xinghuai
X
Sun
D002386:Cataract / Q000235:genetics* / Q000378:metabolism; D002681:China; D017630:Connexins / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D016133:Polymerase Chain Reaction
D017630:Connexins; C082917:GJA3 protein, human; D004247:DNA