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

59 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

Access to Document

10.1002/humu.1380050110

Cite this

@article{74b311cf0a034c3e816872dc6bf9cab4,

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",

language = "English",

volume = "5",

pages = "76--80",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "Wiley-Blackwell, Wiley",

number = "1",

}

TY - JOUR

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

KW - PMP22

KW - SSCP

UR - http://www.scopus.com/inward/record.url?scp=0028981762&partnerID=8YFLogxK

U2 - 10.1002/humu.1380050110

DO - 10.1002/humu.1380050110

M3 - Article

C2 - 7728152

AN - SCOPUS:0028981762

SN - 1059-7794

VL - 5

SP - 76

EP - 80

JO - Human Mutation

JF - Human Mutation

IS - 1

ER -

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

Abstract

Keywords

Access to Document

Other files and links

Fingerprint

Cite this