Fig. 1.

a Pedigree of the four-generation Chinese family with congenital cataracts. Squares and circles, respectively, indicate males and females. Empty symbols and filled symbols, respectively, indicate unaffected individuals and affected individuals. The arrow and diagonal lines, respectively, indicate the proband and a deceased individual. Family individuals whose DNA was analyzed with whole-exome sequencing and Sanger sequencing are marked by double asterisks, and individuals analyzed by Sanger sequencing are indicated by a single asterisk. b Photograph of the right eye of the patient (IV: 6). Slit-lamp photograph showing the phenotype of punctate cortical opacities. The same phenotype was noted bilaterally. The age of onset for IV:6 was 19 years old. The symptoms were less severe than in the male patients. Other affected family members underwent cataract extractions. c DNA sequences of MIP in unaffected and affected individuals. A novel heterozygous frameshift mutation (c.682_683delAA, p.K228fs) in MIP was detected. The mutation was not detected in unaffected family members or in 100 control samples