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Journal Article

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1

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Hoeltzenbein,  Maria
Max Planck Society;

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Citation

Huehne, K., Benes, V., Thiel, C., Kraus, C., Kress, W., Hoeltzenbein, M., et al. (2003). Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1. Human Mutations, 21(1), 100-100. doi:10.1002/humu.9101.


Cite as: http://hdl.handle.net/11858/00-001M-0000-0010-8AF5-A
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.