Analysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population.

ABSTRACT:

Background

GNE myopathy is a rare autosomal recessive distal myopathy caused by mutations in UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), a bifunctional enzyme critical for sialic acid biosynthesis. This study aimed to describe a novel autosomal recessive GNE pedigree in a Chinese family and explore the possible mechanism of GNE variants in GNE myopathy, the most common distal myopathy in China. The clinical, genetic, and pathological characteristics of 216 Chinese patients with GNE myopathy were also summarized.

Methods

The proband and her family underwent a comprehensive medical history assessment and neurological examinations. Whole-exome sequencing was performed on the proband, and Sanger sequencing was performed on family members. 293T cell line

SUBMITTER: Xing Y 

PROVIDER: S-EPMC11972457 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature