Identification of 4 Novel Variants in 19 Families with Congenital Cataracts

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.