Molecular Genetics & Genomic Medicine (Jun 2021)

Genetic and clinical spectrums in Korean Charcot‐Marie‐Tooth disease patients with myelin protein zero mutations

  • Hye Jin Kim,
  • Soo Hyun Nam,
  • Hye Mi Kwon,
  • Si On Lim,
  • Jae Hong Park,
  • Hyun Su Kim,
  • Sang Beom Kim,
  • Kyung Suk Lee,
  • Ji Eun Lee,
  • Byung‐Ok Choi,
  • Ki Wha Chung

DOI
https://doi.org/10.1002/mgg3.1678
Journal volume & issue
Vol. 9, no. 6
pp. n/a – n/a

Abstract

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Abstract Background Charcot‐Marie‐Tooth disease (CMT) is the most common disorder of inherited peripheral neuropathies characterized by distal muscle weakness and sensory loss. CMT is usually classified into three types, demyelinating, axonal, and intermediate neuropathies. Mutations in myelin protein zero (MPZ) gene which encodes a transmembrane protein of the Schwann cells as a major component of peripheral myelin have been reported to cause various type of CMT. Methods This study screened MPZ mutations in Korean CMT patients (1,121 families) by whole exome sequencing and targeted sequencing. Results We identified 22 pathogenic or likely pathogenic MPZ mutations in 36 families as the underlying cause of the CMT1B, CMTDID, or CMT2I subtypes. Among them, five mutations were novel. The frequency of CMT patients with the MPZ mutations was similar or slightly lower compared to other ethnic groups. Conclusions We showed that the median onset ages and clinical phenotypes varied by subtypes: the most severe in the CMT1B group, and the mildest in the CMT2I group. This study also observed a clear correlation that earlier onsets cause more severe symptoms. We believe that this study will provide useful reference data for genetic and clinical information on CMT patients with MPZ mutations in Korea.

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