Identification of mutations associated with congenital cataracts in nineteen Chinese families.

ABSTRACT:

Background

Congenital cataracts (CC) are one of the leading causes of impaired vision or blindness in children, with approximately 8.3-25% being inherited. The aim of this study is to investigate the mutation spectrum and frequency of 9 cataract-associated genes in 19 Chinese families with congenital cataracts.

Purpose

To identify the gene variants associated with congenital cataracts.

Methods

This study included a total of 58 patients from 19 pedigrees with congenital cataracts. All probands were initially screened by whole-exome sequencing(WES), and then validated by co-segregation analysis using Sanger sequencing.

Results

Likely pathogenic variants were detected in 8 families, with a positivity rate of 42.1%. Variants in various genes were identified, includ

SUBMITTER: Sun HS 

PROVIDER: S-EPMC11853334 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature