Case Report: A family of congenital cataract caused by a novel mutation in the CRYGC gene c.52G>A

The patients in this pedigree exhibited an autosomal dominant inheritance pattern, with all affected individuals presenting bilateral lens opacities unaccompanied by systemic abnormalities, confirming a definitive diagnosis of congenital cataracts. Genetic screening identified a novel CRYGC gene mutation (c.52G>A:p. Glu18Lys) as the pathogenic cause of congenital cataracts in this family. Our findings expand the mutational spectrum of the CRYGC gene associated with congenital cataracts and provide enhanced insights into the molecular basis of this condition.