title: [The characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease].
abstract: OBJECTIVE
  To study the characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease (CMT).
  
  
  METHODS
  Real-time quantitative PCR, PCR-SSCP, and/or direct sequencing were used to analyze the mutation of the pathogenic genes PMP22, MPZ, CX32, EGR2, GDAP1, NEFL, HSP22 and HSP27 in 113 probands of CMT families, 45 of which had family history, from different provinces in China. The whole family members of the subjects with abnormal electrophoretic bands and 50 normal controls underwent the same examination.
  
  
  RESULTS
  Thirty-six cases of PMP22 duplication, 7 cases of CX32 mutation, 1 case of HSP22 mutation, 1 case of HSP27 mutation, 1 case of MPZ mutation, and 1 case of GDAP1 mutation were found in the 113 CMT probands. No point mutation was found in PMP22, EGR2 and NEFL genes.
  
  
  CONCLUSIONS
  Among the Chinese CMT patients 31.9% are caused by PMP22 duplication, 6.2% by CX32, and 0.9% by HSP22, HSP27, MPZ and GDAP1. Point mutations of PMP22, EGR2 and NEFL are rare.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Fu-feng
authors.initials: FF
authors.lastname: Zhang
authors.forename: Bei-sha
authors.initials: BS
authors.lastname: Tang
authors.forename: Guo-hua
authors.initials: GH
authors.lastname: Zhao
authors.forename: Wei
authors.initials: W
authors.lastname: Luo
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Xiao-min
authors.initials: XM
authors.lastname: Liu
authors.forename: Jian-feng
authors.initials: JF
authors.lastname: Xiao
authors.forename: Ru-xu
authors.initials: RX
authors.lastname: Zhang
authors.forename: Biao
authors.initials: B
authors.lastname: Chen
authors.forename: Cheng
authors.initials: C
authors.lastname: Hang
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.forename: Fang
authors.initials: F
authors.lastname: Cai
authors.forename: Peng
authors.initials: P
authors.lastname: Guo
mesh_terms: D000293:Adolescent; D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D055815:Young Adult
chemical_list: D008565:Membrane Proteins