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Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract
Abstract
Background:GJA8 encodes connexin-50, a gap junction protein in the eye lens. Mutations in GJA8 have been reported in families with autosomal dominant cataract.
Objective: To identify the disease gene in a family with congenital cataract of autosomal recessive inheritance.
Methods: Eight candidate genes were screened for pathogenic alterations in affected and unaffected family members and in normal unrelated controls.
Results: A single base insertion leading to frameshift at codon 203 of connexin 50 was found to co-segregate with disease in the family.
Conclusions: These results confirm involvement of GJA8 in autosomal recessive cataract.
- SSCP, single-strand conformation polymorphism
- GJA8
- connexin
- hereditary cataract
- recessive cataract
- mutations