MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis

Byung Ok Choi, Sang Beom Kim, Sumera Kanwal, Young S.E. Hyun, Sun Wha Park, Heasoo Koo, Jeong Hyun Yoo, Jae Won Hyun, Kee Duk Park, Kyoung Gyu Choi, Ki Wha Chung

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6 Scopus citations


Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous peripheral neuropathy. The objective of this study was to find the causative mutation(s) in a demyelinating autosomal dominant CMT family. A high density SNP-based genome-wide linkage scan was performed, and causative mutations were determined by sequencing of candidate genes in the linkage disequilibrium region. Linkage analysis mapped the underlying gene to a region on chromosome Iq22-q23 with a maximum two-point LOD score of 2.036. Sequencing analysis revealed a novel c.243C>G (His81Gln) mutation in the MPZ gene, which encodes the major integral membrane protein of the peripheral nerve system. MPZ is well known as a CMT-causative gene with wide phenotypic spectrum. The clinical symptoms were more similar to those of patients with the His81Arg than patients with the His81Tyr mutation. The novel mutation completely co-segregated with affected members, and was not found in controls. Therefore, we suggest that the identified mutation in MPZ is the underlying cause of CMT in the family. In addition, this study demonstrated that the clinical phenotypes may be variable with different mutations at the same site in the MPZ gene.

Original languageEnglish
Pages (from-to)389-396
Number of pages8
JournalInternational Journal of Molecular Medicine
Issue number3
StatePublished - Sep 2011


  • Charcot-Marie-Tooth disease
  • Genome-wide scan
  • Korean
  • Linkage analysis
  • MPZ


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