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  Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1

Huehne, K., Benes, V., Thiel, C., Kraus, C., Kress, W., Hoeltzenbein, M., et al. (2003). Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1. Human Mutations, 21(1), 100-100. doi:10.1002/humu.9101.

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Item Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-8AF5-A Version Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-8AF6-8
Genre: Journal Article
Alternative Title : Hum Mut

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 Creators:
Huehne, Kathrin, Author
Benes, Vladimir, Author
Thiel, Christian, Author
Kraus, Cornelia, Author
Kress, Wolfram, Author
Hoeltzenbein, Maria1, Author
Ploner, Christoph J., Author
Kotzian, Johannes, Author
Reis, André, Author
Rott, Hans Dieter, Author
Rautenstrauss, Bernd W., Author
Affiliations:
1Max Planck Society, ou_persistent13              

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Free keywords: Charcot-Marie-Tooth; CMT; PMP22; MPZ; GJB1; Cx32
 Abstract: Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous disorder of the peripheral nervous system. CMT type 1 is most frequently caused by a 1.4 Mb tandem duplication in chromosome 17p11.2 comprising the peripheral myelin protein 22 (PMP22) gene. Furthermore sequence variations of PMP22, myelin protein zero (MPZ) and the gap junction protein b 1 gene (GJB1 or Connexin 32) may cause a variety of distinct CMT phenotypes. In this study we screened DNA from 42 unrelated patients for mutations in the PMP22, MPZ and GJB1 genes. Four novel mutations were identified. A Val65Phe amino acid exchange in PMP22 causes CMT type 1 associated with deafness, in GJB1 Tyr7_Thr8delinsSer, Pro172Ala and Ser138Asn are causes of CMTX neuropathies.

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 Dates: 2003-01
 Publication Status: Issued
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 127654
DOI: 10.1002/humu.9101
 Degree: -

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Title: Human Mutations
  Alternative Title : Hum Mut
Source Genre: Journal
 Creator(s):
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Publ. Info: -
Pages: - Volume / Issue: 21 (1) Sequence Number: - Start / End Page: 100 - 100 Identifier: ISSN: 1059-7794