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Background  Congenital cataract is a clinically and genetically heterogeneous visual impairment. The aim of this study was to identify causative mutations in five unrelated Chinese families diagnosed with congenital cataracts.    Methods  Detailed family history and clinical data were collected, and ophthalmological examinations were performed using slit-lamp photography. Genomic DNA was extracted from peripheral blood of all available members. Thirty-eight genes associated with cataract were captured and sequenced in 5 typical nonsyndromic congenital cataract probands by targeted next-generation sequencing (NGS), and the results were confirmed by Sanger sequencing. Bioinformatics analysis was performed to predict the functional effect of mutant genes.    Results  Results from the DNA sequencing revealed five potential causative mutations: c.154 T > C(p.F52 L) in  GJA8  of Family 1, c.1152_1153insG(p.S385Efs*83) in  GJA3  of Family 2, c.1804 G > C(p.G602R) in  BFSP1  of Family 3, c.1532C > T(p.T511 M) in  EPHA2  of Family 4 and c.356G > A(p.R119H) in  HSF4  of Family 5. These mutations co-segregated with all affected individuals in the families and were not found in unaffected family members nor in 50 controls. Bioinformatics analysis from several prediction tools supported the possible pathogenicity of these mutations.    Conclusions  In this study, we identified five novel mutations (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 ) in five Chinese families with hereditary cataracts, respectively. NGS can be used as an effective tool for molecular diagnosis of genetically heterogeneous disorders such as congenital cataract, and the results can provide more effective clinical diagnosis and genetic counseling for the five families.

Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing