Identification of a novel RHO heterozygous nonsense mutation in a Chinese family with autosomal dominant retinitis pigmentosa.

ABSTRACT:

Background

To explore the molecular genetic cause of a four-generation autosomal dominant retinitis pigmentosa family in China.

Methods

Targeted region sequencing was performed to detect the potential mutation, and Sanger sequencing was used to validate the mutation. Multiple sequence alignment from different species was performed by CLUSTALW. The structures of wild-type and the mutant RHO were modeled by Swiss-Model Server and shown using a PyMOL Molecular Graphic system.

Results

A novel heterozygous nonsense mutation (c.1015 A > T, p.Lys339Ter, p.K339X) within RHO, which cosegregated with retinitis pigmentosa phenotype was detected in this family. Bioinformatics analysis showed the mutation was located in a highly conserved region, and the mutation was predicted to

SUBMITTER: Liu W 

PROVIDER: S-EPMC8504003 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature