title: [Mutation analysis of MFN2 gene in Chinese patients with Charcot-Marie-Tooth disease].
abstract: OBJECTIVE
  To analyze MFN2 gene mutation in Chinese patients Charcot-Marie-Tooth disease (CMT) and to establish a quick and effective diagnostic method.
  
  
  METHODS
  Through denaturing high-performance liquid chromatography (DHPLC) combined with DNA sequencing, MFN2 gene mutation analysis was carried out in 35 Chinese CMT2 patients including 9 probands of CMT2 pedigree and 26 sporadic CMT2 patients.
  
  
  RESULTS
  The investigators found three abnormal sequence variations in MFN2 gene: c.281G-->A, c.395G-->A and c.408A-->T. c.395G-->A (C132T) was a novel causative missense mutation firstly reported while c.281G-->A (R94Q) a hotspot mutation and c.408A-->T (V136V) a single nucleotide polymorphism (SNP). The accuracy and specificity of DHPLC detection reached up to 100%.
  
  
  CONCLUSIONS
  Through DHPLC combined with DNA sequencing, MFN2 mutations are detected in Chinese CMT2 patients. There are two causative missense mutations: c.395G-->A (C132T) and c.281G-->A (R94Q) and one SNP c.408A-->T (V136V). Such a method is an effective and economic diagnostic screening tool of MFN2 gene in CMT patients on a large scale.
authors.affiliation: Department of Neurology, Third Xiangya Hospital, Central South University, Changsha 410013, China. ruxu.zhang@yahoo.com.cn
authors.forename: Ru-xu
authors.initials: RX
authors.lastname: Zhang
authors.forename: Min
authors.initials: M
authors.lastname: Fu
authors.forename: Xiao-hong
authors.initials: XH
authors.lastname: Zi
authors.forename: Xiao-bo
authors.initials: XB
authors.lastname: Li
authors.forename: Fu-feng
authors.initials: FF
authors.lastname: Zhang
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.forename: Zheng-mao
authors.initials: ZM
authors.lastname: Hu
authors.forename: Bei-Sha
authors.initials: BS
authors.lastname: Tang
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005260:Female; D020558:GTP Phosphohydrolases; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D055815:Young Adult
chemical_list: D017931:DNA Primers; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D020558:GTP Phosphohydrolases; C470018:MFN2 protein, human