AIM:To detect the causative mutation for congenital coralliform cataracts in a Chinese family.

METHODS:Peripheral blood samples were collected and genomic DNA was extracted. We chose four candidate genes associated with congenital coralliform cataract including GJA3,GJA8,CRYGC and CRYGD. After genomic polymerase chain reaction(PCR)performed, we sequenced the coding exons and their flanking intronic sequences of four candidate genes.

RESULTS:We ascertained a three-generation Chinese family with autosomal dominant coralliform congenital cataracts. Mutation screenings were performed for all four candidate genes, and a heterozygous variant, c.70C>A,was identified in exon 2 of CRYGD.

CONCLUSION:Our result demonstrates that a heterozygous mutation of CRYGD is responsible for the autosomal dominant congenital coralliform cataract in a three-generation Chinese pedigree.