title: X-linked Charcot-Marie-Tooth disease predominates in a cohort of multiethnic Malaysian patients.
abstract: BACKGROUND
  Data regarding Charcot-Marie-Tooth disease is lacking in Southeast Asian populations. We investigated the frequency of the common genetic mutations in a multiethnic Malaysian cohort.
  
  
  METHODS
  Patients with features of Charcot-Marie-Tooth disease or hereditary liability to pressure palsies were investigated for PMP22 duplication, deletion, and point mutations and GJB1, MPZ, and MFN2 point mutations.
  
  
  RESULTS
  Over a period of 3 years, we identified 25 index patients. A genetic diagnosis was reached in 60%. The most common were point mutations in GJB1, accounting for X-linked Charcot-Marie-Tooth disease (24% of the total patient population), followed by PMP22 duplication causing Charcot-Marie-Tooth disease type 1A (20%). We also discovered 2 novel GJB1 mutations, c.521C>T (Proline174Leucine) and c.220G>A (Valine74Methionine).
  
  
  CONCLUSIONS
  X-linked Charcot-Marie-Tooth disease was found to predominate in our patient cohort. We also found a better phenotype/genotype correlation when applying a more recently recommended genetic approach to Charcot-Marie-Tooth disease.
authors: Division of Neurology, Department of Medicine, University of Malaya, Lembah Pantai, 50603, Kuala Lumpur, Malaysia.
authors: Nortina
authors: N
authors: Shahrizaila
authors: Sarimah
authors: S
authors: Samulong
authors: Shelisa
authors: S
authors: Tey
authors: Liaw Chiew
authors: LC
authors: Suan
authors: Lao Kah
authors: LK
authors: Meng
authors: Khean Jin
authors: KJ
authors: Goh
authors: Azlina
authors: A
authors: Ahmad-Annuar
mesh_terms: D000328:Adult; D044466:Asian People / Q000208:ethnology* / Q000235:genetics*; D002607:Charcot-Marie-Tooth Disease / Q000453:epidemiology* / Q000208:ethnology / Q000235:genetics*; D002681:China / Q000208:ethnology; D015331:Cohort Studies; D017630:Connexins / Q000235:genetics; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007194:India / Q000208:ethnology; D008296:Malaysia / Q000453:epidemiology; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics; D018993:Myelin P0 Protein / Q000235:genetics; D009185:Myelin Proteins / Q000235:genetics; D017354:Point Mutation / Q000235:genetics; D015995:Prevalence; D012189:Retrospective Studies; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D020558:GTP Phosphohydrolases; D024101:Mitochondrial Proteins; D018993:Myelin P0 Protein; D009185:Myelin Proteins; D000097002:Gap Junction beta-1 Protein; C560547:MPZ protein, human; C073687:PMP22 protein, human; C470018:MFN2 protein, human
keywords: Charcot-Marie-Tooth disease; GJB1; MPZ; PMP22; genetics