A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree.

Abstract

This report is the first to relate p.R198W mutation in GJA8 with CCMC. The result expands the mutation spectrum of GJA8 in associated with congenital cataract and microcornea, and implies that this gene has direct involvement with the development of the lens as well as the other anterior segment of the eye.