Phenotypic convergence in Charcot-Marie-Tooth 2Y with novel VCP mutation

Jasmine Gite; Emily Milko; Lauren Brady; Steven K Baker

doi:10.1016/j.nmd.2020.02.002

Phenotypic convergence in Charcot-Marie-Tooth 2Y with novel VCP mutation

Neuromuscul Disord. 2020 Mar;30(3):232-235. doi: 10.1016/j.nmd.2020.02.002. Epub 2020 Feb 7.

Authors

Jasmine Gite¹, Emily Milko², Lauren Brady³, Steven K Baker⁴

Affiliations

¹ Oakland University William Beaumont School of Medicine, Rochester Hills, MI, United States.
² McMaster University, Physical Medicine and Rehabilitation, Hamilton, Ontario, Canada.
³ McMaster Children's Hospital, Department of Pediatrics, Hamilton, Ontario, Canada.
⁴ McMaster University, Physical Medicine and Neurology, Neuromuscular Disease Clinic, Ontario L8S 4L8, Canada. Electronic address: bakersk@mcmaster.ca.

PMID: 32165109
DOI: 10.1016/j.nmd.2020.02.002

Abstract

Charcot-Marie-Tooth (CMT) disease, a hereditary motor and sensory neuropathy, has subtypes with varied inheritance patterns and phenotypic presentation. Subtypes additionally vary by genetic variants in a number of genes. Pathogenic variants in the VCP gene have newly been associated with CMT type 2. We present a family with CMT type 2 with a novel heterozygous VCP variant and phenotypic variability between the proband, his brother, and father.

Keywords: Acquired & hereditary neuropathies; Charcot Marie Tooth disease; Peripheral neuropathy.

Publication types

Case Reports

MeSH terms

Adult
Aged
Charcot-Marie-Tooth Disease* / diagnosis
Charcot-Marie-Tooth Disease* / genetics
Charcot-Marie-Tooth Disease* / physiopathology
Humans
Male
Pedigree
Valosin Containing Protein / genetics*

Substances

VCP protein, human
Valosin Containing Protein