BFSP1 and cataract: We firstly reported five novel mutations associated with autosomal dominant cataracts: c.154 T > C in GJA8, c.1152_1153insG in GJA3, c.1804G > C in BFSP1, c.1532C > T in EPHA2, c.356G > A in HSF4. This study expands the mutation spectrum of congenital cataracts, and provide solid evidence for genetic counseling and prenatal gene diagnosis of the cataract families.