Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case

Hum Mutat. 1997;10(1):21-4. doi: 10.1002/(SICI)1098-1004(1997)10:1<21::AID-HUMU3>3.0.CO;2-P.


Dejerine-Sottas syndrome (DSS), a severe demyelinating peripheral neuropathy with onset in infancy, has been associated with mutations in either PMP22 or MPZ. Most cases of DSS are caused by a single heterozygous dominant point mutation. We identified three de novo point mutations in MPZ exon 3 in a sporadic DSS patient. These three point mutations occur on the same allele and result in three novel amino acid substitutions: Ile(85)Thr, Asn(87)His, and Asp(99)Asn. Our data raise the question as to the potential mechanism(s) involved in the formation of multiple point mutations at a given locus.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Sequence
  • Exons
  • Female
  • Genes, Dominant / genetics
  • Hereditary Sensory and Motor Neuropathy / genetics*
  • Heterozygote
  • Humans
  • Male
  • Molecular Sequence Data
  • Myelin P0 Protein / genetics*
  • Pedigree
  • Point Mutation*
  • Sequence Analysis, DNA


  • Myelin P0 Protein