title: Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
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".
authors.affiliation: Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.
authors.forename: Kathrin
authors.initials: K
authors.lastname: Huehne
authors.forename: Vladimir
authors.initials: V
authors.lastname: Benes
authors.forename: Christian
authors.initials: C
authors.lastname: Thiel
authors.forename: Cornelia
authors.initials: C
authors.lastname: Kraus
authors.forename: Wolfram
authors.initials: W
authors.lastname: Kress
authors.forename: Maria
authors.initials: M
authors.lastname: Hoeltzenbein
authors.forename: Christoph J
authors.initials: CJ
authors.lastname: Ploner
authors.forename: Johannes
authors.initials: J
authors.lastname: Kotzian
authors.forename: André
authors.initials: A
authors.lastname: Reis
authors.forename: Hans Dieter
authors.initials: HD
authors.lastname: Rott
authors.forename: Bernd W
authors.initials: BW
authors.lastname: Rautenstrauss
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D018993:Myelin P0 Protein / Q000737:chemistry / Q000235:genetics*; D009185:Myelin Proteins / Q000737:chemistry / Q000235:genetics*; D017434:Protein Structure, Tertiary; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D018993:Myelin P0 Protein; D009185:Myelin Proteins; D000097002:Gap Junction beta-1 Protein; C073687:PMP22 protein, human