[A heterozygous transversion of connexin 50 in a family with congenital nuclear cataract in the northeast of China].

Abstract

This is the first report on a mutation in the first connexin signature region of the GJA8 and a different mutation within Cx50 revealed in this family, which might account for the phenotypic differences observed. Furthermore, this study confirmed that GJA8 plays a vital role in the maintenance of human lens transparency.