New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1

Biochem Mol Biol Int. 1993 Sep;31(1):169-73.


P0, the major structural protein of peripheral myelin, is a homophilic adhesion molecule with a single immunoglobulin (Ig) domain, which contains a single N-linked glycosylation site and two cysteines. We have previously reported four different mutations of the myelin P0 gene in four families of Charcot-Marie-Tooth neuropathy type 1 (CMT1). In this study we found a new mutation of the myelin P0 gene in a small family of CMT1. The affected persons had an A - to - G substitution of nucleotide 245 of the myelin P0 gene in one allele, leading to a cysteine substitution for tyrosine82 in the extracellular Ig-domain. An additional cysteine in the extracellular domain may form a disulfide bond and cause an inappropriate change in the tertiary structure of the functional Ig-domain of P0.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Amino Acid Sequence
  • Base Sequence
  • Cell Adhesion Molecules, Neuronal / chemistry
  • Cell Adhesion Molecules, Neuronal / genetics*
  • Charcot-Marie-Tooth Disease / genetics*
  • Female
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Myelin P0 Protein
  • Myelin Proteins / chemistry
  • Myelin Proteins / genetics*
  • Polymerase Chain Reaction


  • Cell Adhesion Molecules, Neuronal
  • Myelin P0 Protein
  • Myelin Proteins

Associated data

  • GENBANK/D14584
  • GENBANK/D14720
  • GENBANK/D14853
  • GENBANK/D90501