Report of a novel mutation in the PMP22 gene causing an axonal neuropathy

Muscle Nerve. 2011 Apr;43(4):605-9. doi: 10.1002/mus.21973. Epub 2011 Feb 17.


Introduction: Point mutations in the peripheral myelin protein 22 (PMP22) gene rarely cause the hereditary neuropathies Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), both of which show a demyelinating phenotype.

Methods: In this study we characterized a family with an axonal neuropathy.

Results: Three family members carried a heterozygous point mutation of the PMP22 gene, resulting in amino acid substitution R159C. Screening of 185 healthy controls did not reveal the R159C allele in any case.

Discussion: The novel R159C mutation represents a very rare case of a dominant PMP22 mutation causing an axonal neuropathy.

Publication types

  • Case Reports

MeSH terms

  • Aged, 80 and over
  • Axons / pathology*
  • Axons / physiology*
  • Child
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Myelin Proteins / genetics*
  • Pedigree
  • Polyneuropathies / genetics*
  • Polyneuropathies / physiopathology


  • Myelin Proteins
  • PMP22 protein, human