A novel frameshift mutation in CX46 associated with hereditary dominant cataracts in a Chinese family.

Aim: To investigate the genetic mutations that are associated the hereditary autosomal dominant cataract in a Chinese family.

Methods: A Chinese family consisting of 20 cataract patients (including 9 male and 11 female) and 2 unaffected individuals from 5 generations were diagnosed to be a typical autosomal dominant cataract pedigree. Genomic DNA samples were extracted from the peripheral blood cells of the participants in this pedigree.