Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.

ABSTRACT:

Background

GNE myopathy is a rare autosomal recessively inherited muscle disease resulting from mutations in the gene encoding GNE (UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase), a key enzyme in sialic acid biosynthesis. 154 different pathogenic variants have been previously associated with GNE myopathy.

Objective

Describe novel pathogenic variants associated with GNE myopathy in a large French cohort.

Methods

We analyzed mutational data from 32 GNE myopathy index patients. Novel, as well as previously published pathogenic variants, were examined for possible deleterious effects on splicing.

Results

We describe 13 novel pathogenic variants in GNE, identified in the first large French cohort reported to date. We also find that 6 published patho

SUBMITTER: Cerino M 

PROVIDER: S-EPMC5278624 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature