Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A

Nat Genet. 1992 Jun;1(3):176-9. doi: 10.1038/ng0692-176.


Charcot-Marie-Tooth disease 1A (CMT1A) is a hereditary demyelinating peripheral neuropathy, associated with a DNA duplication on chromosome 17p11.2. A related disorder in the mouse, trembler (Tr), maps to mouse chromosome 11 which has syntenic homology to human chromosome 17p. Recently, the peripheral myelin protein-22 (pmp-22) gene was identified as the likely Tr locus. We have constructed a partial yeast artificial chromosome contig spanning the CMT1A gene region and mapped the PMP-22 gene to the duplicated region. These observations further implicate PMP-22 as a candidate gene for CMT1A, and suggest that over-expression of this gene may be one mechanism that produces the CMT1A phenotype.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Base Sequence
  • Charcot-Marie-Tooth Disease / classification
  • Charcot-Marie-Tooth Disease / genetics*
  • Chromosome Mapping
  • Chromosomes, Fungal
  • Chromosomes, Human, Pair 17*
  • DNA / genetics
  • Female
  • Gene Library
  • Genetic Markers
  • Genome, Human
  • Humans
  • Male
  • Mice
  • Molecular Sequence Data
  • Multigene Family
  • Myelin Proteins / genetics*


  • Genetic Markers
  • Myelin Proteins
  • PMP22 protein, human
  • Pmp22 protein, mouse
  • DNA