Identification of 4 Novel Variants in 19 Families with Congenital Cataracts

Abstract Background Congenital cataracts (CC) are one of the leading causes of impaired vision or blindness in children, of which approximately 8.3–25% are inherited. More than 100 cataract-related genes have been identified globally. Purpose To identify the gene variants associated with congenital cataracts. Methods This study included a total of 58 patients from 19 pedigrees with congenital cataracts. All probands were initially screened by whole-exome sequencing(WES), and some pedigrees were validated by co-segregation analysis using Sanger sequencing. Results Pathogenic variants were detected in 10 families, with a positivity rate of 52.6%. Variants in various genes were identified, including GJA3, CRYGD, BFSP2, CRYAA, and CRYBA1. Importantly, this study identified novel variants in CRYBA4, IARS2, ARL2, and CRYBB3. Conclusions Our research findings have revealed multiple gene variant sites associated with cataracts in the 10 families studied, providing clinical guidance for better understanding and management of the disease.