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  • Title: A novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract.
    Author: Li J, Wang Q, Fu Q, Zhu Y, Zhai Y, Yu Y, Zhang K, Yao K.
    Journal: Mol Vis; 2013; 19():767-74. PubMed ID: 23592913.
    Abstract:
    PURPOSE: To characterize the disease-causing mutations in four generations of a Chinese family affected with bilateral congenital nuclear and zonular pulverulent cataract. METHODS: Detailed family history and clinical data were recorded. The phenotype was documented using slit-lamp photography. Candidate genes were amplified using PCR and screened for mutations using bidirectional sequencing. RESULTS: Affected individuals had nuclear and zonular pulverulent cataract with Y-sutural opacities. Sequencing of the candidate genes revealed a heterozygous c. 139G>C change in the coding sequence of the connexin 50 gene (gap junction protein, alpha 8 [GJA8]), which results in the substitution of a wild-type aspartic acid with a histidine (D47H). This mutation cosegregated with all affected individuals in the family and was not found in unaffected family members or in 100 unrelated controls. CONCLUSIONS: Our study has identified a novel connexin 50 gene (GJA8) mutation, resulting in the amino substitution p. D47H in a Chinese family with nuclear and zonular pulverulent congenital cataracts. This mutation is probably the causative lesion for the observed phenotype in this family.
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