Identification of two novel PRPF31 mutations in Chinese families with non-syndromic autosomal dominant retinitis pigmentosa.

ABSTRACT:

Background

Retinitis pigmentosa is a heterogeneous group of inherited retinal diseases leading to progressive vision loss. It has been estimated that the etiology is still unclear in 22%-40% of cases, indicating that many novel pathogenic variations related to RP remain unidentified in many patients. In this study, our aim was to investigate the disease-causing variants and function of the variants in two Chinese families with non-syndromic autosomal dominant retinitis pigmentosa (adRP).

Methods

Clinical data and peripheral blood DNA samples were collected. Whole exome sequencing (WES) was conducted to screen for variations. Then, the expression of green fluorescent protein (GFP)-fused wild-type PRPF31 protein and its variants was evaluated via western blotting and GFP fluor

SUBMITTER: Cao L 

PROVIDER: S-EPMC7767543 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature