De novo mutation of the myelin Po gene in Dejerine−Sottas disease (hereditary motor and sensory neuropathy type III)

Kiyoshi Hayasaka*, Masato Himoro, Yukio Sawaishi, Kenji Nanao, Tsutomu Takahashi, Goro Takada, Garth A. Nicholson, Robert A. Ouvrier, Nobutada Tachi

*Corresponding author for this work

Research output: Contribution to journalArticle

194 Citations (Scopus)

Abstract

We have investigated the myelin Po gene on chromosome 1 as a candidate gene in two sporadic cases with Dejerine−Sottas disease or hereditary motor and sensory neuropathy (HMSN) type III. We found different mutations, a cysteine substitution for serine 63 in the extracellular domain and an arginine substitution for glycine 167 in the transmembrane domain. The patients were genetically heterozygous for the normal allele and the mutant allele, which was absent in their parents and in one hundred unrelated, healthy controls. The results strongly suggest that a de novo dominant mutation of the Po gene is responsible for at least some sporadic cases of Dejerine−Sottas disease.

Original languageEnglish
Pages (from-to)266-268
Number of pages3
JournalNature Genetics
Volume5
Issue number3
DOIs
Publication statusPublished - 1993
Externally publishedYes

    Fingerprint

Cite this

Hayasaka, K., Himoro, M., Sawaishi, Y., Nanao, K., Takahashi, T., Takada, G., ... Tachi, N. (1993). De novo mutation of the myelin Po gene in Dejerine−Sottas disease (hereditary motor and sensory neuropathy type III). Nature Genetics, 5(3), 266-268. https://doi.org/10.1038/ng1193-266