Déjérine‐Sottas neuropathy is associated with a de novo PMP22 mutation

Linda J. Valentijn*, Robert A. Ouvrier, Norbert H A Van Den Bosch, Pieter A. Bolhuis, Frank Baas, Garth A. Nicholson

*Corresponding author for this work

Research output: Contribution to journalArticle

54 Citations (Scopus)

Abstract

We identified a de novo mutation in the peripheral myelin protein (PMP22) gene of a patient with Déjérine‐Sottas neuropathy. Single‐stranded conformation analysis of PCR‐amplified DNA fragments showed an additional fragment for exon 1 in the patient, which was absent in the unaffected parents. Sequence analysis showed a de novo point mutation C85→A that results in an amino acid substitution Hisl2Gln in the first transmembrane domain of PMP22. This provides further evidence that sporadic cases of Déjérine‐Sottas neuropathy can be due to dominant single base substitutions.© 1995 wiley‐Liss, Inc.

Original languageEnglish
Pages (from-to)76-80
Number of pages5
JournalHuman mutation
Volume5
Issue number1
DOIs
Publication statusPublished - 1995
Externally publishedYes

Keywords

  • De novo mutation
  • Déjérine‐Sottas
  • PMP22
  • SSCP

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    Valentijn, L. J., Ouvrier, R. A., Van Den Bosch, N. H. A., Bolhuis, P. A., Baas, F., & Nicholson, G. A. (1995). Déjérine‐Sottas neuropathy is associated with a de novo PMP22 mutation. Human mutation, 5(1), 76-80. https://doi.org/10.1002/humu.1380050110