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

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.

• Authors: 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
• Journal: Molecular genetics & genomic medicine (Mol Genet Genomic Med) Vol. 9 Issue 6 Pg. e1678 (06 2021) ISSN: 2324-9269 [Electronic] United States
• PMID: 33825325 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.

Chemical References

• MPZ protein, human
• Myelin P0 Protein

Topics

• Adolescent
• Adult
• Charcot-Marie-Tooth Disease (genetics, pathology)
• Female
• Humans
• Male
• Mutation
• Myelin P0 Protein (genetics)
• Phenotype
• Republic of Korea