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

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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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