Do variants in the CDH23 gene cause non-syndromic retinitis pigmentosa? Dual validation using whole exome sequencing and a zebrafish model.

ABSTRACT:

Objective

Using whole exome sequencing to detect pathogenic genes in families with inherited retinal dystrophy, and also to investigate the effects of CDH23 gene knockdown on the retinal structure of zebrafish.

Methods

In this study, we collected data from a patient diagnosed with retinitis pigmentosa (RP) at Ningxia Eye Hospital in 2022. Comprehensive ophthalmic and systemic examinations were conducted, and peripheral venous blood samples were obtained from the proband and family members. Whole exome sequencing was used to screen for pathogenic gene mutations in the proband, and Sanger validation was performed on the detected likely pathogenic sites. The zebrafish CDH23 gene was knocked down using gene-editing technology. Wild type and CDH23-knockdown z

SUBMITTER: Fan X 

PROVIDER: S-EPMC12519656 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature