Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

Nat Genet. 1993 Sep;5(1):31-4. doi: 10.1038/ng0993-31.


P0, a major structural protein of peripheral myelin, is a homophilic adhesion molecule and maps to chromosome 1q22-q23, in the region of the locus for Charcot-Marie-Tooth neuropathy type 1B (CMT1B). We have investigated P0 as a candidate gene in two pedigrees with CMT1B and found point mutations which are completely linked with the disease (Z = 5.5, theta = 0). The mutations, glutamate substitution for lysine 96 or aspartate 90, are located in the extracellular domain, which plays a significant role in myelin membrane adhesion. Individuals with CMT1B are heterozygous for the normal allele and the mutant allele. Our results indicate that P0 is a gene responsible for CMT1B.

Publication types

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

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • Base Sequence
  • Charcot-Marie-Tooth Disease / classification
  • Charcot-Marie-Tooth Disease / genetics*
  • Chromosomes, Human, Pair 1
  • Female
  • Genes
  • Genotype
  • Humans
  • Lod Score
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Myelin P0 Protein
  • Myelin Proteins / genetics*
  • Pedigree
  • Polymorphism, Restriction Fragment Length


  • Myelin P0 Protein
  • Myelin Proteins

Associated data

  • GENBANK/D14583
  • GENBANK/D14584
  • GENBANK/D14720
  • GENBANK/D90501