Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
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".
Huehne
Kathrin
K
Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.
Benes
Vladimir
V
Thiel
Christian
C
Kraus
Cornelia
C
Kress
Wolfram
W
Hoeltzenbein
Maria
M
Ploner
Christoph J
CJ
Kotzian
Johannes
J
Reis
André
A
Rott
Hans Dieter
HD
Rautenstrauss
Bernd W
BW
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
D017630:Connexins; D018993:Myelin P0 Protein; D009185:Myelin Proteins; D000097002:Gap Junction beta-1 Protein; C073687:PMP22 protein, human