Phenotypic convergence in Charcot-Marie-Tooth 2Y with novel VCP mutation |
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| Institution: | 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;1. Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, CA, USA;2. Departments of Anatomy & Neurobiology, University of Kentucky Medical College, Lexington, KY, USA;3. Department of Neurology, University of Kentucky Medical College, Lexington, KY, USA;4. Division of Neuropathology, University of Maryland School of Medicine, Baltimore, MD, USA;5. Department of Radiology, University of California Irvine Medical Center, Orange, CA, USA;6. Child Development Center, Department of Pediatrics, University of California Irvine, Irvine, CA, USA;7. Departments of Orthopedics, Physiology & Biophysics, University of California Irvine, Irvine, CA, USA;1. Department of Neurology, Tokyo Metropolitan Neurological Hospital, 2-6-1 Musashidai, Fuchu, Tokyo 183-0042, Japan;2. Department of Neuropathology, Tokyo Metropolitan Neurological Hospital, 2-6-1 Musashidai, Fuchu, Tokyo 183-0042, Japan;3. Department of Neurology, National Center Hospital;4. National Center Hospital, National Center of Neurology and Psychiatry, 4-4-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan;5. Medical Genome Center, National Center of Neurology and Psychiatry, 4-4-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan;6. National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-4-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan;7. Department of Pathophysiology, Tokyo Medical University, 6-1-1 Shinjyuku, Shinjyuku-ku, Tokyo 160-0022, Japan;1. Department of Neurology, University Hospital Mustapha Bacha, Algiers, Algeria;2. Laboratoire de Neurosciences, University of Algiers 1, Algiers, Algeria;3. Laboratoire de Biologie Moléculaire, University of Boumerdes, Boumerdes, Algeria;4. Department of Neurology, CHU Poitiers, University of Poitiers, France;5. Centre de Référence Neuropathies Périphériques Rares, Service et Laboratoire de Neurologie, University Hospital, Limoges, France;1. Neuromuscular Diseases Unit, Department of Neurosciences, Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain;2. Grup de Recerca en Malalties Neuromusculars i Neuropediatriques, Department of Neurosciences, Institut d''Investigació en Ciències de la Salut Germans Trias i Pujol, Universitat Autònoma de Barcelona, Badalona, Spain;3. Molecular Diagnostics Platform, BioDonostia Health Research Institute, Hospital Donostia, San Sebastián, Spain;4. Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain;5. Universidad Europea, Instituto de investigación Hospital, 12 de Octubre (i+12), Madrid, Spain;6. Servicio de Anatomia Patológica, Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain |
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| 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. |
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