Mutations Update Causing CMT Types - from Germany

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Research Abstract from Hum Mutat 2003 Jan;21(1):100

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and

GJB1.

Huehne K, Benes V, Thiel C, Kraus C, Kress W, Hoeltzenbein M, Ploner CJ,

Kotzian J, Reis A, Rott HD, Rautenstrauss BW.

Institute of Human Genetics, Friedrich- University (FAU)

Erlangen-Nuremberg, Erlangen, Germany.

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 " .

Copyright 2002 Wiley-Liss, Inc.