Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy

Muscle Nerve. 2011 Nov;44(5):819-22. doi: 10.1002/mus.22189.

Abstract

We report four novel point mutations in the PMP22 gene with two different phenotypes: mutation p.Ser79Thr arose de novo in a patient with the Dejerine-Sottas neuropathy (DSN) phenotype; and mutations c.78+5 G>A, c.320-1 G>C, and p.Trp140Stop segregated with HNPP in 5 families.Our findings show that point mutations in PMP22 may be more likely in HNPP patients than in CMT1 patients after exclusion of CMT1A/HNPP.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Adult
  • Arthrogryposis / diagnosis
  • Arthrogryposis / genetics*
  • Charcot-Marie-Tooth Disease / diagnosis
  • Charcot-Marie-Tooth Disease / genetics*
  • Child, Preschool
  • Female
  • Hereditary Sensory and Motor Neuropathy / diagnosis
  • Hereditary Sensory and Motor Neuropathy / genetics*
  • Humans
  • Male
  • Middle Aged
  • Myelin Proteins / genetics*
  • Phenotype*
  • Point Mutation / genetics*
  • Young Adult

Substances

  • Myelin Proteins
  • PMP22 protein, human

Supplementary concepts

  • Tomaculous neuropathy