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A recurrent MORC2 mutation causes Charcot‐Marie‐Tooth disease type 2Z
Author(s) -
Vujovic Dragan,
Cornblath David R.,
Scherer Steven S.
Publication year - 2021
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1111/jns.12443
Subject(s) - weakness , medicine , vinblastine , disease , mutation , neurotoxicity , pediatrics , pathology , surgery , chemotherapy , genetics , toxicity , biology , gene
Abstract 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.