A novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract.

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.

• Authors: Jinyu Li, Qiwei Wang, Qiuyue Fu, Yanan Zhu, Yi Zhai, Yinhui Yu, Kai Zhang, Ke Yao
• Journal: Molecular vision (Mol Vis) Vol. 19 Pg. 767-74 ( 2013) ISSN: 1090-0535 [Electronic] United States
• PMID: 23592913 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Connexins
• Eye Proteins
• connexin 50

Topics

• Amino Acid Sequence
• Base Sequence
• Cataract (congenital, genetics)
• Computational Biology
• Connexins (chemistry, genetics)
• DNA Mutational Analysis
• Diagnostic Techniques, Ophthalmological
• Eye Proteins (chemistry, genetics)
• Female
• Genes, Dominant
• Genetic Association Studies
• Genetic Predisposition to Disease
• Humans
• Male
• Molecular Sequence Data
• Mutation (genetics)
• Pedigree
• Protein Structure, Secondary