title: [Analysis of CX32 gene mutation and related clinical features in Chinese Han Charcot-Marie-Tooth families].
abstract: OBJECTIVE
  To analyze the mutation of CX32 gene and related clinical features in Chinese Han patients with Charcot-Marie-Tooth (CMT) disease.
  
  
  METHODS
  Thirty-four CMT families, from 2004 to 2011 at Departments of Neurology, Xiangya Hospital, Third Xiangya Hospital and National Key Laboratory of Medical Genetics, were selected for CX32 mutation screening after the exclusion of the PMP22 duplication and male-to-male transmission. Mutation analysis was carried out by polymerase chain reaction (PCR) plus direct sequencing. Analyses of clinical, electrophysiological and pathological features in 11 patients from 6 CMTX1 families were performed by 2 neurologists.
  
  
  RESULTS
  Five CX32 gene mutations were detected in 6 CMT families: c.37G > A, c.65G > A, c.246C > G, c.256A > G and c.533A > G. Among them, c.246C > G and c.533A > G were firstly reported. The clinical manifestations included progressive distal muscle atrophy and weakness, areflexia, sensory abnormalities and pes vacus. Nerve conduction velocity ranged from 21.7 to 49.3 m/s. Both demyelination and axonal degeneration were detected in nerve biopsy.
  
  
  CONCLUSIONS
  CMT1X has a frequency of around 9% in our study. The male patients tend to have more serious clinical features and their electrophysiological and pathological changes are intermediate. CX32 mutation analysis helps to confirm the genetic diagnosis of CMT so as to provide genetic counseling and reproductive guidance and elucidate its pathogenesis.
authors.affiliation: Department of Neurology, Third Xiangya Hospital, Central South University, Changsha 410013, China.
authors.forename: Ya-jing
authors.initials: YJ
authors.lastname: Zhan
authors.forename: Xiao-hong
authors.initials: XH
authors.lastname: Zi
authors.forename: Lin
authors.initials: L
authors.lastname: Li
authors.forename: Xiao-bo
authors.initials: XB
authors.lastname: Li
authors.forename: Shun-xiang
authors.initials: SX
authors.lastname: Huang
authors.forename: Lan
authors.initials: L
authors.lastname: Li
authors.forename: Xi-gui
authors.initials: XG
authors.lastname: Li
authors.forename: Zheng-mao
authors.initials: ZM
authors.lastname: Hu
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Bei-sha
authors.initials: BS
authors.lastname: Tang
authors.forename: Ru-xu
authors.initials: RX
authors.lastname: Zhang
mesh_terms: D044466:Asian People / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D000097002:Gap Junction beta-1 Protein