Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation
Introduction. The valosin-containing protein (VCP) regulates several distinct cellular processes. Consistent with this, VCP mutations manifest variable clinical phenotypes among and within families and are a diagnostic challenge. Methods. A 60-year-old man who played ice hockey into his 50’s was eva...
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2015/239167 |
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| author | Nivedita U. Jerath Cameron D. Crockett Steven A. Moore Michael E. Shy Conrad C. Weihl Tsui-Fen Chou Tiffany Grider Michael A. Gonzalez Stephan Zuchner Andrea Swenson |
| author_facet | Nivedita U. Jerath Cameron D. Crockett Steven A. Moore Michael E. Shy Conrad C. Weihl Tsui-Fen Chou Tiffany Grider Michael A. Gonzalez Stephan Zuchner Andrea Swenson |
| author_sort | Nivedita U. Jerath |
| collection | DOAJ |
| description | Introduction. The valosin-containing protein (VCP) regulates several distinct cellular processes. Consistent with this, VCP mutations manifest variable clinical phenotypes among and within families and are a diagnostic challenge. Methods. A 60-year-old man who played ice hockey into his 50’s was evaluated by electrodiagnostics, muscle biopsy, and molecular genetics. Results. With long-standing pes cavus and toe walking, our patient developed progressive weakness, cramps, memory loss, and paresthesias at age 52. An axonal sensorimotor neuropathy was found upon repeated testing at age 58. Neuropathic histopathology was present in the quadriceps, and exome sequencing revealed the VCP mutation c.290 C>T, p.Gly97Glu. Conclusions. Our patient reflects the clinical heterogeneity of VCP mutations, as his neurological localization is a spectrum between a lower motor neuron disorder and a hereditary axonal peripheral neuropathy such as CMT2. Our case demonstrates a rare manifestation of the c.290 C>T, pGly97Glu VCP mutation. |
| format | Article |
| id | doaj-art-661d61dbe508436db25e09b4381af760 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-661d61dbe508436db25e09b4381af7602025-02-03T05:53:45ZengWileyCase Reports in Genetics2090-65442090-65522015-01-01201510.1155/2015/239167239167Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP MutationNivedita U. Jerath0Cameron D. Crockett1Steven A. Moore2Michael E. Shy3Conrad C. Weihl4Tsui-Fen Chou5Tiffany Grider6Michael A. Gonzalez7Stephan Zuchner8Andrea Swenson9Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USADepartment of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USADepartment of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USADepartment of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USADepartment of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USADivision of Medical Genetics, Department of Pediatrics, Harbor-UCLA Medical Centre, Los Angeles Biomedical Research Institute, Torrance, CA 90502, USADepartment of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USADr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, 1501 NW 10 Avenue, Miami, FL 33136, USADr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, 1501 NW 10 Avenue, Miami, FL 33136, USADepartment of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USAIntroduction. The valosin-containing protein (VCP) regulates several distinct cellular processes. Consistent with this, VCP mutations manifest variable clinical phenotypes among and within families and are a diagnostic challenge. Methods. A 60-year-old man who played ice hockey into his 50’s was evaluated by electrodiagnostics, muscle biopsy, and molecular genetics. Results. With long-standing pes cavus and toe walking, our patient developed progressive weakness, cramps, memory loss, and paresthesias at age 52. An axonal sensorimotor neuropathy was found upon repeated testing at age 58. Neuropathic histopathology was present in the quadriceps, and exome sequencing revealed the VCP mutation c.290 C>T, p.Gly97Glu. Conclusions. Our patient reflects the clinical heterogeneity of VCP mutations, as his neurological localization is a spectrum between a lower motor neuron disorder and a hereditary axonal peripheral neuropathy such as CMT2. Our case demonstrates a rare manifestation of the c.290 C>T, pGly97Glu VCP mutation.http://dx.doi.org/10.1155/2015/239167 |
| spellingShingle | Nivedita U. Jerath Cameron D. Crockett Steven A. Moore Michael E. Shy Conrad C. Weihl Tsui-Fen Chou Tiffany Grider Michael A. Gonzalez Stephan Zuchner Andrea Swenson Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation Case Reports in Genetics |
| title | Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation |
| title_full | Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation |
| title_fullStr | Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation |
| title_full_unstemmed | Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation |
| title_short | Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation |
| title_sort | rare manifestation of a c 290 c t p gly97glu vcp mutation |
| url | http://dx.doi.org/10.1155/2015/239167 |
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