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Novel mutations in the Charcot‐Marie‐Tooth disease genes PMP22, MPZ, and GJB1
Author(s) -
Huehne Kathrin,
Benes Vladimir,
Thiel Christian,
Kraus Cornelia,
Kress Wolfram,
Hoeltzenbein Maria,
Ploner Christoph J.,
Kotzian Johannes,
Reis André,
Rott Hans Dieter,
Rautenstrauss Bernd W.
Publication year - 2003
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9101
Subject(s) - biology , peripheral myelin protein 22 , gene duplication , gene , genetics , mutation , myelin , phenotype , tooth disease , connexin 32 , chromosome , microbiology and biotechnology , connexin , central nervous system , intracellular , neuroscience , gap junction
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”. © 2002 Wiley‐Liss, Inc.
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