Identification of Co-segregating GJA3 and CRYBA1 Missense Variants in a Chinese Family with Congenital Cataract
Release date:
2025-12-18
Description:
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.
Organization: he Affiliated Eye Hospital, Nanjing Medical University
Submission date: 2025-12-12
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