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

Dragan Vujovic; David R. Cornblath; Steven S. Scherer

doi:10.1111/jns.12443

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

Dragan Vujovic, David R. Cornblath, Steven S. Scherer

School of Medicine

Research output: Contribution to journal › Article › peer-review

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.

Original language	English (US)
Pages (from-to)	184-186
Number of pages	3
Journal	Journal of the Peripheral Nervous System
Volume	26
Issue number	2
DOIs	https://doi.org/10.1111/jns.12443
State	Published - Jun 2021

Keywords

Charcot-Marie-Tooth disease
axonal CMT
neuropathy
vinblastine

ASJC Scopus subject areas

Neuroscience(all)
Clinical Neurology

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10.1111/jns.12443

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title = "A recurrent MORC2 mutation causes Charcot-Marie-Tooth disease type 2Z",

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.",

keywords = "Charcot-Marie-Tooth disease, axonal CMT, neuropathy, vinblastine",

author = "Dragan Vujovic and Cornblath, {David R.} and Scherer, {Steven S.}",

note = "Funding Information: This work was supported by the Judy Seltzer Levenson Memorial Fund for CMT Research, the INC (U54NS065712), which is a part of the NCATS Rare Diseases Clinical Research Network (RDCRN), an initiative of the Office of Rare Diseases Research (ORDR), NCATS, funded through a collaboration between NCATS and the NINDS. Publisher Copyright: {\textcopyright} 2021 Peripheral Nerve Society.",

year = "2021",

month = jun,

doi = "10.1111/jns.12443",

language = "English (US)",

volume = "26",

pages = "184--186",

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AU - Cornblath, David R.

AU - Scherer, Steven S.

N1 - Funding Information: This work was supported by the Judy Seltzer Levenson Memorial Fund for CMT Research, the INC (U54NS065712), which is a part of the NCATS Rare Diseases Clinical Research Network (RDCRN), an initiative of the Office of Rare Diseases Research (ORDR), NCATS, funded through a collaboration between NCATS and the NINDS. Publisher Copyright: © 2021 Peripheral Nerve Society.

PY - 2021/6

Y1 - 2021/6

N2 - 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.

AB - 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.

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KW - axonal CMT

KW - neuropathy

KW - vinblastine

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

Abstract

Keywords

ASJC Scopus subject areas

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