X-linked Charcot-Marie-Tooth disease predominates in a cohort of multiethnic Malaysian patients

Muscle Nerve. 2014 Feb;49(2):198-201. doi: 10.1002/mus.23892. Epub 2013 Oct 4.


Introduction: 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.

Keywords: Charcot-Marie-Tooth disease; GJB1; MPZ; PMP22; genetics.

MeSH terms

  • Adult
  • Asian People / ethnology*
  • Asian People / genetics*
  • Charcot-Marie-Tooth Disease / epidemiology*
  • Charcot-Marie-Tooth Disease / ethnology
  • Charcot-Marie-Tooth Disease / genetics*
  • China / ethnology
  • Cohort Studies
  • Connexins / genetics
  • Female
  • GTP Phosphohydrolases / genetics
  • Gap Junction beta-1 Protein
  • Genetic Testing
  • Humans
  • India / ethnology
  • Malaysia / epidemiology
  • Male
  • Mitochondrial Proteins / genetics
  • Myelin P0 Protein / genetics
  • Myelin Proteins / genetics
  • Point Mutation / genetics
  • Prevalence
  • Retrospective Studies


  • Connexins
  • MPZ protein, human
  • Mitochondrial Proteins
  • Myelin P0 Protein
  • Myelin Proteins
  • PMP22 protein, human
  • GTP Phosphohydrolases
  • MFN2 protein, human

Supplementary concepts

  • Charcot-Marie-Tooth disease, X-linked, 1