Genetic analysis and clinical characteristics of sporadic and familial congenital cataracts in southern Chinese families

This study performed WES in 40 probands with congenital cataracts from southern China and achieved a molecular diagnostic yield of 37.5%. Pathogenic/likely pathogenic variants were predominantly identified in crystallin genes, genes encoding lens membrane proteins, and genes implicated in syndromic forms of disease. Notably, a substantial proportion of apparently sporadic cases harbored variants suggestive of a <i>de novo</i> origin. These findings support the clinical utility of WES in clarifying the genetic basis of genetically heterogeneous congenital cataract. They also underscore the limitations of WES compared with whole-genome sequencing (WGS) and highlight the need for larger cohorts and functional validation of candidate variants.