title: [GNE gene mutation analysis in 5 patients with distal myopathy with rimmed vacuoles].
abstract: OBJECTIVE
  To investigate GNE gene mutations in 5 Chinese patients with distal myopathy with rimmed vacuoles (DMRV).
  
  
  METHODS
  Five patients with typical clinical and pathological features of DMRV were studied. All the 11 coding exons and the flanking intron sequences of GNE gene were amplified by PCR and sequenced. Four family members of case 5 were also examined for GNE gene mutations.
  
  
  RESULTS
  All the patients were identified to have different GNE gene mutations: Cases 1-4 had complex heterozygous mutations and case 5 had homozygous mutation. Six reported mutations had been identified, including 1 nonsense mutation (p.R8X) and 5 missense mutations (p.D176V, p.I298T, p.A591T, P.A631V, and p.V696M). A novel mutation (c.317T>C, p.I106T) was identified in case 2.
  
  
  CONCLUSIONS
  This is the first report of p.R8X, p.I298T, p.A591T and p.V696M mutations in GNE gene in Chinese population, and a novel mutation p.I106T was identified. These findings further expand the clinical and genetic spectrum of DMRV in China.
authors.affiliation: Department of Neurology, General Hospital of PLA, Beijing, China.
authors.forename: Xiang-hui
authors.initials: XH
authors.lastname: Lu
authors.forename: Chuan-qiang
authors.initials: CQ
authors.lastname: Pu
authors.forename: Qiang
authors.initials: Q
authors.lastname: Shi
authors.forename: Wen-jing
authors.initials: WJ
authors.lastname: Luo
authors.forename: Ke
authors.initials: K
authors.lastname: Li
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D004252:DNA Mutational Analysis; D049310:Distal Myopathies / Q000201:enzymology / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009097:Multienzyme Complexes / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D055815:Young Adult
chemical_list: D009097:Multienzyme Complexes; C482901:UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase