Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy

Journal of Cellular and Molecular Medicine
Yuan WuHao Deng

Abstract

GNE myopathy is a rare, recessively inherited, early adult-onset myopathy, characterized by distal and proximal muscle degeneration which often spares the quadriceps. It is caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE). This study aimed to identify the disease-causing mutation in a three-generation Han-Chinese family with members who have been diagnosed with myopathy. A homozygous missense mutation, c.1627G>A (p.V543M) in the GNE gene co-segregates with the myopathy present in this family. A GNE myopathy diagnosis is evidenced by characteristic clinical manifestations, rimmed vacuoles in muscle biopsies and the presence of biallelic GNE mutations. This finding broadens the GNE gene mutation spectrum and extends the GNE myopathy phenotype spectrum.

References

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Methods Mentioned

BETA
biopsy
biopsies
Exome Sequencing

Software Mentioned

PolyPhen
OncoCap Enrichment System
SIFT
MutPred2
Basic Local Alignment Search Tool
polymorphism
MutationTaster

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