Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A

L J Valentijn; F Baas; R A Wolterman; J E Hoogendijk; N H van den Bosch; I Zorn; A W Gabreëls-Festen; M de Visser; P A Bolhuis

doi:10.1038/ng1292-288

Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A

L J Valentijn, F Baas, R A Wolterman, J E Hoogendijk, N H van den Bosch, I Zorn, A W Gabreëls-Festen, M de Visser, P A Bolhuis

Neurology & Neurosurgery

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

We have investigated the peripheral myelin protein gene, PMP-22, in a family with Charcot-Marie-Tooth disease type 1A (CMT1A). The DNA duplication commonly found in CMT1A was absent in this family, but strong linkage existed between the disease and the CMT1A marker VAW409R3 on chromosome 17p11.2. We found a point mutation in PMP-22 which was completely linked with the disease. The mutation, a proline for leucine substitution in the first putative transmembrane domain, is identical to that recently found in the Trembler-J mouse. The presence of this PMP-22 defect in this CMT1A family and the location of PMP-22 within the DNA duplication associated with CMT1A suggest that both structural alteration and overexpression of PMP-22 may lead to the disease.

Original language	English
Pages (from-to)	288-91
Number of pages	4
Journal	Nature Genetics
Volume	2
Issue number	4
DOIs	https://doi.org/10.1038/ng1292-288
Publication status	Published - Dec 1992

Keywords

Amino Acid Sequence
Animals
Base Sequence
Charcot-Marie-Tooth Disease
DNA
Disease Models, Animal
Gene Expression
Humans
Mice
Mice, Neurologic Mutants
Molecular Sequence Data
Multigene Family
Myelin Proteins
Point Mutation
Comparative Study
Journal Article
Research Support, Non-U.S. Gov't

Access to Document

10.1038/ng1292-288

Cite this

@article{ce40f5994bc44a3392f55c7894d2c2ef,

title = "Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A",

abstract = "We have investigated the peripheral myelin protein gene, PMP-22, in a family with Charcot-Marie-Tooth disease type 1A (CMT1A). The DNA duplication commonly found in CMT1A was absent in this family, but strong linkage existed between the disease and the CMT1A marker VAW409R3 on chromosome 17p11.2. We found a point mutation in PMP-22 which was completely linked with the disease. The mutation, a proline for leucine substitution in the first putative transmembrane domain, is identical to that recently found in the Trembler-J mouse. The presence of this PMP-22 defect in this CMT1A family and the location of PMP-22 within the DNA duplication associated with CMT1A suggest that both structural alteration and overexpression of PMP-22 may lead to the disease.",

keywords = "Amino Acid Sequence, Animals, Base Sequence, Charcot-Marie-Tooth Disease, DNA, Disease Models, Animal, Gene Expression, Humans, Mice, Mice, Neurologic Mutants, Molecular Sequence Data, Multigene Family, Myelin Proteins, Point Mutation, Comparative Study, Journal Article, Research Support, Non-U.S. Gov't",

author = "Valentijn, {L J} and F Baas and Wolterman, {R A} and Hoogendijk, {J E} and {van den Bosch}, {N H} and I Zorn and Gabre{\"e}ls-Festen, {A W} and {de Visser}, M and Bolhuis, {P A}",

year = "1992",

month = dec,

doi = "10.1038/ng1292-288",

language = "English",

volume = "2",

pages = "288--91",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Research",

number = "4",

}

TY - JOUR

T1 - Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A

AU - Valentijn, L J

AU - Baas, F

AU - Wolterman, R A

AU - Hoogendijk, J E

AU - van den Bosch, N H

AU - Zorn, I

AU - Gabreëls-Festen, A W

AU - de Visser, M

AU - Bolhuis, P A

PY - 1992/12

Y1 - 1992/12

N2 - We have investigated the peripheral myelin protein gene, PMP-22, in a family with Charcot-Marie-Tooth disease type 1A (CMT1A). The DNA duplication commonly found in CMT1A was absent in this family, but strong linkage existed between the disease and the CMT1A marker VAW409R3 on chromosome 17p11.2. We found a point mutation in PMP-22 which was completely linked with the disease. The mutation, a proline for leucine substitution in the first putative transmembrane domain, is identical to that recently found in the Trembler-J mouse. The presence of this PMP-22 defect in this CMT1A family and the location of PMP-22 within the DNA duplication associated with CMT1A suggest that both structural alteration and overexpression of PMP-22 may lead to the disease.

AB - We have investigated the peripheral myelin protein gene, PMP-22, in a family with Charcot-Marie-Tooth disease type 1A (CMT1A). The DNA duplication commonly found in CMT1A was absent in this family, but strong linkage existed between the disease and the CMT1A marker VAW409R3 on chromosome 17p11.2. We found a point mutation in PMP-22 which was completely linked with the disease. The mutation, a proline for leucine substitution in the first putative transmembrane domain, is identical to that recently found in the Trembler-J mouse. The presence of this PMP-22 defect in this CMT1A family and the location of PMP-22 within the DNA duplication associated with CMT1A suggest that both structural alteration and overexpression of PMP-22 may lead to the disease.

KW - Amino Acid Sequence

KW - Animals

KW - Base Sequence

KW - Charcot-Marie-Tooth Disease

KW - DNA

KW - Disease Models, Animal

KW - Gene Expression

KW - Humans

KW - Mice

KW - Mice, Neurologic Mutants

KW - Molecular Sequence Data

KW - Multigene Family

KW - Myelin Proteins

KW - Point Mutation

KW - Comparative Study

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

U2 - 10.1038/ng1292-288

DO - 10.1038/ng1292-288

M3 - Article

C2 - 1303281

SN - 1061-4036

VL - 2

SP - 288

EP - 291

JO - Nature Genetics

JF - Nature Genetics

IS - 4

ER -

Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A

Abstract

Keywords

Access to Document

Fingerprint

Cite this