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

doi:10.1002/humu.1380050110

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 journal › Article › peer-review

58 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 language	English
Pages (from-to)	76-80
Number of pages	5
Journal	Human mutation
Volume	5
Issue number	1
DOIs	https://doi.org/10.1002/humu.1380050110
Publication status	Published - 1995
Externally published	Yes

Keywords

De novo mutation
Déjérine‐Sottas
PMP22
SSCP

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title = "D{\'e}j{\'e}rine‐Sottas neuropathy is associated with a de novo PMP22 mutation",

abstract = "We identified a de novo mutation in the peripheral myelin protein (PMP22) gene of a patient with D{\'e}j{\'e}rine‐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 D{\'e}j{\'e}rine‐Sottas neuropathy can be due to dominant single base substitutions.{\textcopyright} 1995 wiley‐Liss, Inc.",

keywords = "De novo mutation, D{\'e}j{\'e}rine‐Sottas, PMP22, SSCP",

author = "Valentijn, {Linda J.} and Ouvrier, {Robert A.} and {Van Den Bosch}, {Norbert H A} and Bolhuis, {Pieter A.} and Frank Baas and Nicholson, {Garth A.}",

year = "1995",

doi = "10.1002/humu.1380050110",

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T1 - Déjérine‐Sottas neuropathy is associated with a de novo PMP22 mutation

AU - Valentijn, Linda J.

AU - Ouvrier, Robert A.

AU - Van Den Bosch, Norbert H A

AU - Bolhuis, Pieter A.

AU - Baas, Frank

AU - Nicholson, Garth A.

PY - 1995

Y1 - 1995

N2 - 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.

AB - 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.

KW - De novo mutation

KW - Déjérine‐Sottas

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KW - SSCP

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JO - Human mutation

JF - Human mutation

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ER -

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

Abstract

Keywords

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