title: [Mutation analysis of small heat shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease].
abstract: OBJECTIVE
  To investigate the features of small heat shock protein 27 (HSP27) gene mutation in Chinese patients with Charcot-Marie-Tooth disease (CMT).
  
  
  METHODS
  DNA samples from 114 CMT probands were screened for mutations in HSP27 gene by polymerase chain reaction and direct sequencing, and haplotype analysis was further carried out on the mutation detected families.
  
  
  RESULTS
  One missense mutation C379T was detected in 4 autosomal dominant CMT2 families. Haplotype analysis indicated that the 4 families probably had a common ancestor.
  
  
  CONCLUSIONS
  To the authors' knowledge, this is the first report of HSP27 gene mutation in Chinese patients with CMT, but it may be not common(0.90%). The C379T mutation in HSP27 gene also causes CMT2 except for distal hereditary motor neuropathy, thus providing further evidence that even the same mutation in the same gene may lead to distinct phenotypes.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China.
authors.forename: Xiao-min
authors.initials: XM
authors.lastname: Liu
authors.forename: Bei-sha
authors.initials: BS
authors.lastname: Tang
authors.forename: Guo-hua
authors.initials: GH
authors.lastname: Zhao
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Fu-feng
authors.initials: FF
authors.lastname: Zhang
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.forename: Fang
authors.initials: F
authors.lastname: Cai
authors.forename: Zheng-mao
authors.initials: ZM
authors.lastname: Hu
authors.forename: Cheng
authors.initials: C
authors.lastname: Zhang
authors.forename: Biao
authors.initials: B
authors.lastname: Chen
authors.forename: Lu
authors.initials: L
authors.lastname: Shen
authors.forename: Ru-xu
authors.initials: RX
authors.lastname: Zhang
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
mesh_terms: D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000208:ethnology / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D055551:HSP27 Heat-Shock Proteins / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree
chemical_list: D055551:HSP27 Heat-Shock Proteins