1. Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1
- Author
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Cornelia Kraus, Christian Thiel, Kathrin Huehne, Bernd Rautenstrauss, Vladimír Beneš, Christoph J. Ploner, Wolfram Kress, André Reis, Hans Dieter Rott, Johannes Kotzian, and Maria Hoeltzenbein
- Subjects
congenital, hereditary, and neonatal diseases and abnormalities ,Biology ,medicine.disease_cause ,Connexins ,Charcot-Marie-Tooth Disease ,Peripheral myelin protein 22 ,Genetics ,medicine ,Humans ,Genetic Predisposition to Disease ,education ,Gene ,Genetics (clinical) ,education.field_of_study ,Mutation ,Genetic heterogeneity ,Myelin protein zero ,Phenotype ,nervous system diseases ,Protein Structure, Tertiary ,Connexin 32 ,Tandem exon duplication ,Myelin P0 Protein ,Myelin Proteins - 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". more...
- Published
- 2002