Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

Nat Genet. 1993 Nov;5(3):269-73. doi: 10.1038/ng1193-269.

Abstract

Dejerine-Sottas syndrome is a hypertrophic, demyelinating neuropathy which appears to demonstrate autosomal recessive inheritance in most pedigrees. Clinical symptoms are similar but more severe than Charcot-Marie-Tooth disease type 1 (CMT1), of which the major subtype, CMT1A, results either from duplication of a 1.5-megabase DNA region in chromosome 17p11.2-p12 containing the myelin gene PMP22, or from PMP22 point mutation. Mutational analysis of the PMP22 coding region in two unrelated Dejerine-Sottas patients identified individual missense point mutations present in the heterozygous state. These findings suggest that Dejerine-Sottas syndrome can result from dominant point mutation alleles of PMP22.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Child
  • DNA
  • Female
  • Hereditary Sensory and Motor Neuropathy / genetics*
  • Humans
  • Infant
  • Male
  • Molecular Sequence Data
  • Myelin Proteins / genetics*
  • Pedigree
  • Point Mutation*
  • Protein Conformation

Substances

  • Myelin Proteins
  • PMP22 protein, human
  • DNA