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

doi:10.1038/ng1193-266

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 journal › Article › peer-review

205 Citations (Scopus)

Abstract

We have investigated the myelin P_o 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 P_o gene is responsible for at least some sporadic cases of Dejerine−Sottas disease.

Original language	English
Pages (from-to)	266-268
Number of pages	3
Journal	Nature Genetics
Volume	5
Issue number	3
DOIs	https://doi.org/10.1038/ng1193-266
Publication status	Published - 1993
Externally published	Yes

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

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.",

author = "Kiyoshi Hayasaka and Masato Himoro and Yukio Sawaishi and Kenji Nanao and Tsutomu Takahashi and Goro Takada and Nicholson, {Garth A.} and Ouvrier, {Robert A.} and Nobutada Tachi",

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T1 - De novo mutation of the myelin Po gene in Dejerine−Sottas disease (hereditary motor and sensory neuropathy type III)

AU - Hayasaka, Kiyoshi

AU - Himoro, Masato

AU - Sawaishi, Yukio

AU - Nanao, Kenji

AU - Takahashi, Tsutomu

AU - Takada, Goro

AU - Nicholson, Garth A.

AU - Ouvrier, Robert A.

AU - Tachi, Nobutada

PY - 1993

Y1 - 1993

N2 - 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.

AB - 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.

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

Abstract

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