The variants identified in this study
Description
The purpose of this study is to identify the pathogenic variants associated with congenital cataract to inform clinical diagnosis, treatment, reproductive intervention. In this study, we performed Next-Generation Sequencing and Sanger sequencing on 107 families with congenital cataract. A total of 46 likely pathogenic or pathogenic variants across 27 genes were identified in 48 families, comprising 17 autosomal dominant, 4 autosomal recessive, and 6 X-linked genes. Among the 46 variants, there were 26 reported variants and 20 de novo variants (Supplementary table 1). The primers used in the analysis of RNA splicing patterns were provided in supplementary table 2. A total of 12 VUS were sub-classified as “warm” or “hot” VUS. The detailed list of all variants of uncertain significance was provided in supplementary table 3.