Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1

J Peripher Nerv Syst. 2017 Sep;22(3):172-181. doi: 10.1111/jns.12217.

Abstract

Mutations in the gap junction protein beta 1 gene (GJB1) cause X-linked Charcot-Marie-Tooth disease type 1 (CMTX1). CMTX1 is representative of the intermediate type of CMT, having both demyelinating and axonal neuropathic features. We analyzed the clinical and genetic characterization of 128 patients with CMTX1 from 63 unrelated families. Genetic analysis revealed a total of 43 mutations including 6 novel mutations. Ten mutations were found from two or more unrelated families. p.V95M was most frequently observed. The frequency of CMTX1 was 9.6% of total Korean CMT family and was 14.8% when calculated within genetically identified cases. Among 67 male and 61 female patients, 22 females were asymptomatic. A high-arched foot, ataxia, and tremor were observed in 87%, 41%, and 35% of the patients, respectively. In the male patients, functional disability scale, CMT neuropathy score, and compound muscle action potential of the median/ulnar nerves were more severely affected than in the female patients. This study provides a comprehensive summary of the clinical features and spectrum of GJB1 gene mutations in Korean CMTX1 patients.

Keywords: CMTX1; Charcot-Marie-Tooth disease (CMT); Korean; gap junction protein beta 1 (GJB1).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Action Potentials / genetics
  • Adult
  • Charcot-Marie-Tooth Disease / diagnostic imaging
  • Charcot-Marie-Tooth Disease / epidemiology
  • Charcot-Marie-Tooth Disease / genetics*
  • Chi-Square Distribution
  • Connexins / genetics*
  • Electromyography
  • Evoked Potentials, Auditory, Brain Stem / genetics
  • Female
  • Gap Junction beta-1 Protein
  • Genetic Testing
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Neural Conduction / genetics
  • Republic of Korea / epidemiology

Substances

  • Connexins

Supplementary concepts

  • Charcot-Marie-Tooth disease, X-linked, 1