Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1
Kathrin Huehne, Vladimir Benes, Christian Thiel, Cornelia Kraus, Wolfram Kress, Maria Hoeltzenbein, Christoph J Ploner, Johannes Kotzian, André Reis, Hans Dieter Rott, Bernd W Rautenstrauss
DOI: 10.1002/humu.9101
Klíčová slova: Connexins, Genetic Predisposition to Disease, Humans, Charcot-Marie-Tooth Disease, Mutation, Myelin P0 Protein, Myelin Proteins, Protein Structure, Tertiary
Anotace: 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".
Citace: HUEHNE, Kathrin, Vladimir BENES, Christian THIEL, et al. Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1. Human mutation. 2003, 21(1), 100. ISSN 10981004. Dostupné z: doi:10.1002/humu.9101