Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy

Muscle Nerve. 2003 Jul;28(1):113-7. doi: 10.1002/mus.10391.

Abstract

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene is the causative gene for autosomal-recessive hereditary inclusion-body myopathy (h-IBM). Two sisters affected with autosomal-recessive h-IBM were shown to be compound heterozygous for two novel GNE mutations: a large deletion involving exons 1-9, and a R162C amino acid change in the epimerase domain. This is the first deletion event observed in a GNE allele and expands the molecular pathogenesis of autosomal-recessive h-IBM.

Publication types

  • Case Reports

MeSH terms

  • Actin Cytoskeleton / pathology
  • Adult
  • Blotting, Southern
  • DNA / genetics
  • Exons / genetics
  • Female
  • Gait Disorders, Neurologic / etiology
  • Gene Deletion*
  • Genes, Recessive / genetics
  • Heterozygote
  • Humans
  • Microscopy, Electron
  • Muscle, Skeletal / pathology
  • Mutation, Missense / genetics*
  • Mutation, Missense / physiology
  • Myositis, Inclusion Body / genetics*
  • Myositis, Inclusion Body / pathology
  • Phosphotransferases (Alcohol Group Acceptor) / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • DNA
  • Phosphotransferases (Alcohol Group Acceptor)
  • N-acylmannosamine kinase

Associated data

  • OMIM/147420
  • OMIM/269921
  • OMIM/600737
  • OMIM/605637
  • OMIM/605820