The peripheral myelin protein gene PMP-22 is contained within the Charcot-marie-tooth disease type 1A duplication

V. Timmerman, E. Nelis, W. Van Hui, B. W. Nieuwenhuijsen, K. L. Chen, S. Wang, K. Ben Othman, B. Cullen, R. J. Leach, C. O. Hanemann, P. De Jonghe, P. Raeymaekers, G. J B Van Ommen, J. J. Martin, H. W. Müller, Jeffery M Vance, K. H. Fischbeck, C. Van Broeckhoven

Research output: Contribution to journalArticle

351 Citations (Scopus)

Abstract

Charcot-Marie-Tooth disease (CMT1) is the most common form of inherited peripheral neuropathy. Although the disease is genetically heterogeneous, it has been demonstrated that the gene defect in the most frequent type (CMT1A) is the result of a partial duplication of band 17p11.2. Recent studies suggested that the peripheral hypomyelination syndrome in the trembler (Tr) mouse, a possible animal model for CMT1 disease, is associated with a point mutation in the peripheral myelin protein-22 gene (pmp-22). Expression of pmp-22 is particularly high in Schwann cells, and the protein is found in peripheral myelin. We now report that the human PMP-22 gene is contained within the CMT1A duplication. We therefore, suggest that increased dosage of the PMP-22 gene may be the cause of CMT1A neuropathy.

Original languageEnglish
Pages (from-to)171-175
Number of pages5
JournalNature Genetics
Volume1
Issue number3
StatePublished - Dec 1 1992
Externally publishedYes

Fingerprint

Myelin Proteins
Charcot-Marie-Tooth Disease
Genes
Animal Disease Models
Schwann Cells
Myelin Sheath
Point Mutation
Proteins

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Timmerman, V., Nelis, E., Van Hui, W., Nieuwenhuijsen, B. W., Chen, K. L., Wang, S., ... Van Broeckhoven, C. (1992). The peripheral myelin protein gene PMP-22 is contained within the Charcot-marie-tooth disease type 1A duplication. Nature Genetics, 1(3), 171-175.

The peripheral myelin protein gene PMP-22 is contained within the Charcot-marie-tooth disease type 1A duplication. / Timmerman, V.; Nelis, E.; Van Hui, W.; Nieuwenhuijsen, B. W.; Chen, K. L.; Wang, S.; Ben Othman, K.; Cullen, B.; Leach, R. J.; Hanemann, C. O.; De Jonghe, P.; Raeymaekers, P.; Van Ommen, G. J B; Martin, J. J.; Müller, H. W.; Vance, Jeffery M; Fischbeck, K. H.; Van Broeckhoven, C.

In: Nature Genetics, Vol. 1, No. 3, 01.12.1992, p. 171-175.

Research output: Contribution to journalArticle

Timmerman, V, Nelis, E, Van Hui, W, Nieuwenhuijsen, BW, Chen, KL, Wang, S, Ben Othman, K, Cullen, B, Leach, RJ, Hanemann, CO, De Jonghe, P, Raeymaekers, P, Van Ommen, GJB, Martin, JJ, Müller, HW, Vance, JM, Fischbeck, KH & Van Broeckhoven, C 1992, 'The peripheral myelin protein gene PMP-22 is contained within the Charcot-marie-tooth disease type 1A duplication', Nature Genetics, vol. 1, no. 3, pp. 171-175.
Timmerman V, Nelis E, Van Hui W, Nieuwenhuijsen BW, Chen KL, Wang S et al. The peripheral myelin protein gene PMP-22 is contained within the Charcot-marie-tooth disease type 1A duplication. Nature Genetics. 1992 Dec 1;1(3):171-175.
Timmerman, V. ; Nelis, E. ; Van Hui, W. ; Nieuwenhuijsen, B. W. ; Chen, K. L. ; Wang, S. ; Ben Othman, K. ; Cullen, B. ; Leach, R. J. ; Hanemann, C. O. ; De Jonghe, P. ; Raeymaekers, P. ; Van Ommen, G. J B ; Martin, J. J. ; Müller, H. W. ; Vance, Jeffery M ; Fischbeck, K. H. ; Van Broeckhoven, C. / The peripheral myelin protein gene PMP-22 is contained within the Charcot-marie-tooth disease type 1A duplication. In: Nature Genetics. 1992 ; Vol. 1, No. 3. pp. 171-175.
@article{86210782986b49f9a7850cabdf5267e0,
title = "The peripheral myelin protein gene PMP-22 is contained within the Charcot-marie-tooth disease type 1A duplication",
abstract = "Charcot-Marie-Tooth disease (CMT1) is the most common form of inherited peripheral neuropathy. Although the disease is genetically heterogeneous, it has been demonstrated that the gene defect in the most frequent type (CMT1A) is the result of a partial duplication of band 17p11.2. Recent studies suggested that the peripheral hypomyelination syndrome in the trembler (Tr) mouse, a possible animal model for CMT1 disease, is associated with a point mutation in the peripheral myelin protein-22 gene (pmp-22). Expression of pmp-22 is particularly high in Schwann cells, and the protein is found in peripheral myelin. We now report that the human PMP-22 gene is contained within the CMT1A duplication. We therefore, suggest that increased dosage of the PMP-22 gene may be the cause of CMT1A neuropathy.",
author = "V. Timmerman and E. Nelis and {Van Hui}, W. and Nieuwenhuijsen, {B. W.} and Chen, {K. L.} and S. Wang and {Ben Othman}, K. and B. Cullen and Leach, {R. J.} and Hanemann, {C. O.} and {De Jonghe}, P. and P. Raeymaekers and {Van Ommen}, {G. J B} and Martin, {J. J.} and M{\"u}ller, {H. W.} and Vance, {Jeffery M} and Fischbeck, {K. H.} and {Van Broeckhoven}, C.",
year = "1992",
month = "12",
day = "1",
language = "English",
volume = "1",
pages = "171--175",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "3",

}

TY - JOUR

T1 - The peripheral myelin protein gene PMP-22 is contained within the Charcot-marie-tooth disease type 1A duplication

AU - Timmerman, V.

AU - Nelis, E.

AU - Van Hui, W.

AU - Nieuwenhuijsen, B. W.

AU - Chen, K. L.

AU - Wang, S.

AU - Ben Othman, K.

AU - Cullen, B.

AU - Leach, R. J.

AU - Hanemann, C. O.

AU - De Jonghe, P.

AU - Raeymaekers, P.

AU - Van Ommen, G. J B

AU - Martin, J. J.

AU - Müller, H. W.

AU - Vance, Jeffery M

AU - Fischbeck, K. H.

AU - Van Broeckhoven, C.

PY - 1992/12/1

Y1 - 1992/12/1

N2 - Charcot-Marie-Tooth disease (CMT1) is the most common form of inherited peripheral neuropathy. Although the disease is genetically heterogeneous, it has been demonstrated that the gene defect in the most frequent type (CMT1A) is the result of a partial duplication of band 17p11.2. Recent studies suggested that the peripheral hypomyelination syndrome in the trembler (Tr) mouse, a possible animal model for CMT1 disease, is associated with a point mutation in the peripheral myelin protein-22 gene (pmp-22). Expression of pmp-22 is particularly high in Schwann cells, and the protein is found in peripheral myelin. We now report that the human PMP-22 gene is contained within the CMT1A duplication. We therefore, suggest that increased dosage of the PMP-22 gene may be the cause of CMT1A neuropathy.

AB - Charcot-Marie-Tooth disease (CMT1) is the most common form of inherited peripheral neuropathy. Although the disease is genetically heterogeneous, it has been demonstrated that the gene defect in the most frequent type (CMT1A) is the result of a partial duplication of band 17p11.2. Recent studies suggested that the peripheral hypomyelination syndrome in the trembler (Tr) mouse, a possible animal model for CMT1 disease, is associated with a point mutation in the peripheral myelin protein-22 gene (pmp-22). Expression of pmp-22 is particularly high in Schwann cells, and the protein is found in peripheral myelin. We now report that the human PMP-22 gene is contained within the CMT1A duplication. We therefore, suggest that increased dosage of the PMP-22 gene may be the cause of CMT1A neuropathy.

UR - http://www.scopus.com/inward/record.url?scp=0026879615&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0026879615&partnerID=8YFLogxK

M3 - Article

VL - 1

SP - 171

EP - 175

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 3

ER -