Whole Exome Sequencing Identifies a Novel Frameshift Mutation of the WRN Gene in a Werner Syndrome Family and Functional Analysis.

ABSTRACT:

Introduction

Werner syndrome (WS) is a rare recessive disorder characterized by premature aging and metabolic abnormalities. WS is caused by mutations in the WS RecQ-like helicase gene (WRN), which encodes the WRN RecQ-like helicase protein. This study aimed to identify the deletion mutation in the WRN gene within the WS family and comprehensively analyze its regulatory role.

Methods

We utilized whole exome sequencing to assess gene mutations in non-close relatives of two patients with WS. The mutation was further verified using Sanger sequencing. Subsequently, the pathophysiological characteristics of the mutation were examined using Western blotting, subcellular localization determination, conservative analysis, and three-dimensional (3D) protein structure prediction.

R

SUBMITTER: Xiong H 

PROVIDER: S-EPMC12175019 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature