Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible "hot spot" on Ser72

Ann Neurol. 1998 May;43(5):680-3. doi: 10.1002/ana.410430521.

Abstract

The occurrence of mutations in peripheral myelin protein 22 is one of the genetic mechanisms associated with Dejerine-Sottas neuropathy (DSN). On direct sequencing 2 of such patients we have found the first mutation in the third transmembrane domain associated with this neuropathy and the fourth Ser72Leu. We propose that the Ser72 may be a "hot spot" for DSN and that this should be considered for molecular analysis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amino Acid Substitution
  • Child
  • DNA Mutational Analysis
  • Exons / genetics
  • Female
  • Hereditary Sensory and Motor Neuropathy / genetics*
  • Humans
  • Male
  • Point Mutation*
  • Serine / genetics*

Substances

  • Serine