[Mutations in the mitofusin 2 gene are the most common cause of Charcot-Marie-Tooth type 2 disease]

Neurol Neurochir Pol. Jul-Aug 2007;41(4):350-4.
[Article in Polish]


In contrast to Charcot-Marie-Tooth type 1 disease (CMT1), which is most commonly caused by 17p11.2-p12 duplication (in 70% of CMT1 cases), the axonal form of hereditary motor and sensory neuropathy (CMT2) seemed to be a genetically heterogeneous disease group, with no single gene playing a major pathogenetic role. In 2004, 10 mutations were identified in CMT2A families in the MFN2 gene coding for the mitochondrial protein mitofusin-2, previously mapped to the 1p35-36 locus. In the last two years, MFN2 gene mutations were shown to be the most common cause of autosomal dominant hereditary axonopathy. In addition, MFN2 gene mutations were also identified in CMT type 6 (axonal neuropathy with optic nerve atrophy). Recent reports indicate that some MFN2 gene mutations may by inherited as autosomal recessive traits. As MFN2 gene mutations are the most common cause of autosomal dominant CMT2 disease (33% of cases), MFN2 gene testing may be considered a diagnostic test for CMT2.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Charcot-Marie-Tooth Disease / genetics*
  • DNA Mutational Analysis
  • GTP Phosphohydrolases
  • Humans
  • Membrane Proteins / genetics*
  • Mitochondrial Proteins / genetics*
  • Mutation*


  • Membrane Proteins
  • Mitochondrial Proteins
  • GTP Phosphohydrolases
  • MFN2 protein, human