A cohort of GFPT1 related congenital myasthenic syndrome in China: high frequency of c.331 c > t variant.

ABSTRACT:

Background

Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is the key enzyme initiating protein O- and N-glycosylation at the postsynaptic membrane. Variants in GFPT1 gene cause congenital myasthenic (GFPT1-CMS). However, the understanding of the phenotype and genetic spectrum of GFPT1-CMS remains limited.

Methods

A total of 24 patients with GFPT1-CMS from 22 Han Chinese families across four neuromuscular disease centers were included in this study. Clinical assessments involved detailed medical histories, muscle biopsies, and electrophysiological studies. GFPT1 variants were identified using targeted next-generation sequencing or WES. Additionally, published GFPT1-CMS case data from 2011 to 2024 were compiled and combined with this cohort for genotype-phenotype correl

SUBMITTER: Zhang J 

PROVIDER: S-EPMC12124097 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature