A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)

Tohru Ikegami, Garth Nicholson, Hiroyuki Ikeda, Akihiro Ishida, Heather Johnston, Grahame Wise, Robert Ouvrier, Kiyoshi Hayasaka*

*Corresponding author for this work

    Research output: Contribution to journalArticlepeer-review

    51 Citations (Scopus)

    Abstract

    We have previously reported that heterozygosity for myelin Po gene mutations were associated with Charcot-Marie-Tooth disease type 1B (CMT1B) or Dejerine-Sottas disease. We investigated the Po gene in a family with clinical Dejerine-Sottas disease and found two children were homozygous for a deletion of Phe 64. The parents were heterozygous first cousins with subclinical CMT1B and slow nerve conduction velocities. These results suggest that the effect of homozygous Phe 64 deletion on impairment of myelination is dosage-dependent. Clinical phenotype and/or myelin impairment may be determined both by the type of mutation and by the dosage of mutated gene.

    Original languageEnglish
    Pages (from-to)107-110
    Number of pages4
    JournalBiochemical and Biophysical Research Communications
    Volume222
    Issue number1
    DOIs
    Publication statusPublished - 6 May 1996

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