title: Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients.
abstract: OBJECTIVE
  To investigate the genetic loci/mutations among the Chinese Charcot-Marie-Tooth disease type 1 (CMT1), which accounts for approximately 70% of Charcot-Marie-Tooth; and to study the genetic heterogeneity and mutation frequency.
  
  
  METHODS
  CMT1A duplication and mutations at loci of MPZ, Cx32/GJB1, EGR2, and LITAF/SIMPLE were analyzed among 32 clinically diagnosed CMT1 patients of Chinese ancestry.
  
  
  RESULTS
  The CMT1A duplication was detected in 62.5% (20/32) CMT1 patients. This duplication accounts for the major mutation for Chinese CMT1. Among 12 cases that have no CMT1A duplication detected, three point mutations including one (3.1%) in MPZ and two (6.3%) in Cx32 were identified. No mutation was detected in genes PMP22, EGR2 and LITAF among the remaining nine (28.1%) CMT1 patients.
  
  
  CONCLUSIONS
  The mutation frequency for the Chinese CMT1 is similar to that seen in the global ethnic population. Molecular testing of the CMT1A duplication, along with the loci of MPZ and Cx32, may detect the majority of Chinese CMT1 patients.
authors.affiliation: Peking University Center of Medical Genetics, Beijing, China.
authors.forename: Shujuan
authors.initials: S
authors.lastname: Song
authors.forename: Yuanzhi
authors.initials: Y
authors.lastname: Zhang
authors.forename: Biao
authors.initials: B
authors.lastname: Chen
authors.forename: Yuanjin
authors.initials: Y
authors.lastname: Zhang
authors.forename: Manjie
authors.initials: M
authors.lastname: Wang
authors.forename: Yueying
authors.initials: Y
authors.lastname: Wang
authors.forename: Ming
authors.initials: M
authors.lastname: Yan
authors.forename: Junhua
authors.initials: J
authors.lastname: Zou
authors.forename: Yu
authors.initials: Y
authors.lastname: Huang
authors.forename: Nanbert
authors.initials: N
authors.lastname: Zhong
mesh_terms: D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000235:genetics*; D002681:China; D017630:Connexins / Q000235:genetics; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D051767:Early Growth Response Protein 2 / Q000235:genetics; D005006:Ethnicity / Q000235:genetics; D005260:Female; D020440:Gene Duplication; D005787:Gene Frequency; D006801:Humans; D008297:Male; D009154:Mutation; D009185:Myelin Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D004247:DNA; D051767:Early Growth Response Protein 2; D009185:Myelin Proteins; D009687:Nuclear Proteins; D011506:Proteins; D014157:Transcription Factors; D000097002:Gap Junction beta-1 Protein; C109561:CDRT1 protein, human; C497326:EGR2 protein, human; C118738:LITAF protein, human; C073687:PMP22 protein, human