A recurrent MORC2 mutation causes Charcot-Marie-Tooth disease type 2Z

J Peripher Nerv Syst. 2021 Jun;26(2):184-186. doi: 10.1111/jns.12443. Epub 2021 Apr 19.


We found a p.Ala406Val (c.1217C > T) mutation in MORC2 in three individuals, from two families. All three individuals were evaluated and clinical electrophysiology was completed. The neuropathy began in childhood to early adulthood, with distal weakness progressing to proximal weakness. Vinblastine (for Hodgkin lymphoma) acutely worsened the weakness in one patient. This finding confirms that that the p.Ala406Val mutation in MORC2 causes severe neuropathy. In addition, we report the first case of vinblastine neurotoxicity in Charcot-Marie-Tooth disease type 2Z.

Keywords: Charcot-Marie-Tooth disease; axonal CMT; neuropathy; vinblastine.

MeSH terms

  • Charcot-Marie-Tooth Disease* / genetics
  • Humans
  • Mutation / genetics
  • Neoplasms
  • Phenotype
  • Transcription Factors / genetics*
  • Vinblastine


  • MORC2 protein, human
  • Transcription Factors
  • Vinblastine