| HRA015396
(Open Access)
|
We performed a comprehensive clinical and molecular genetic analysis of a multigenerational Chinese family affected by congenital cataract. Whole-exome sequencing, followed by co-segregation analysis within the pedigree, identified two heterozygous missense variants: GJA3 c.776C>A (p.Ser259Tyr) and CRYBA1 c.346A>T (p.Ile116Phe). Sanger sequencing confirmed that both variants completely co-occurred in all affected family members, consistent with an autosomal dominant inheritance pattern. Conservation analysis and multiple bioinformatic predictions suggested that these variants may impair protein stability and function. |
