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Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1
Valosin-containing protein (VCP) gene mutations have been associated with a rare autosomal dominant, adult-onset progressive disease known as multisystem proteinopathy 1 (MSP1), or inclusion body myopathy (IBM), Paget’s disease of bone (PDB), frontotemporal dementia (FTD), (IBMPFD), and amyotrophic...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048343/ https://www.ncbi.nlm.nih.gov/pubmed/36980948 http://dx.doi.org/10.3390/genes14030676 |
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author | Columbres, Rod Carlo Agram Chin, Yue Pratti, Sanjana Quinn, Colin Gonzalez-Cuyar, Luis F. Weiss, Michael Quintero-Rivera, Fabiola Kimonis, Virginia |
author_facet | Columbres, Rod Carlo Agram Chin, Yue Pratti, Sanjana Quinn, Colin Gonzalez-Cuyar, Luis F. Weiss, Michael Quintero-Rivera, Fabiola Kimonis, Virginia |
author_sort | Columbres, Rod Carlo Agram |
collection | PubMed |
description | Valosin-containing protein (VCP) gene mutations have been associated with a rare autosomal dominant, adult-onset progressive disease known as multisystem proteinopathy 1 (MSP1), or inclusion body myopathy (IBM), Paget’s disease of bone (PDB), frontotemporal dementia (FTD), (IBMPFD), and amyotrophic lateral sclerosis (ALS). We report the clinical and genetic analysis findings in five patients, three from the same family, with novel VCP gene variants: NM_007126.5 c.1106T>C (p.I369T), c.478G>A (p.A160T), and c.760A>T (p.I254F), associated with cardinal MSP1 manifestations including myopathy, PDB, and FTD. Our report adds to the spectrum of heterozygous pathogenic variants found in the VCP gene and the high degree of clinical heterogeneity. This case series prompts increased awareness and early consideration of MSP1 in the differential diagnosis of myopathies and/or PDB, dementia, or ALS to improve the diagnosis and early management of clinical symptoms. |
format | Online Article Text |
id | pubmed-10048343 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-100483432023-03-29 Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1 Columbres, Rod Carlo Agram Chin, Yue Pratti, Sanjana Quinn, Colin Gonzalez-Cuyar, Luis F. Weiss, Michael Quintero-Rivera, Fabiola Kimonis, Virginia Genes (Basel) Article Valosin-containing protein (VCP) gene mutations have been associated with a rare autosomal dominant, adult-onset progressive disease known as multisystem proteinopathy 1 (MSP1), or inclusion body myopathy (IBM), Paget’s disease of bone (PDB), frontotemporal dementia (FTD), (IBMPFD), and amyotrophic lateral sclerosis (ALS). We report the clinical and genetic analysis findings in five patients, three from the same family, with novel VCP gene variants: NM_007126.5 c.1106T>C (p.I369T), c.478G>A (p.A160T), and c.760A>T (p.I254F), associated with cardinal MSP1 manifestations including myopathy, PDB, and FTD. Our report adds to the spectrum of heterozygous pathogenic variants found in the VCP gene and the high degree of clinical heterogeneity. This case series prompts increased awareness and early consideration of MSP1 in the differential diagnosis of myopathies and/or PDB, dementia, or ALS to improve the diagnosis and early management of clinical symptoms. MDPI 2023-03-08 /pmc/articles/PMC10048343/ /pubmed/36980948 http://dx.doi.org/10.3390/genes14030676 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Columbres, Rod Carlo Agram Chin, Yue Pratti, Sanjana Quinn, Colin Gonzalez-Cuyar, Luis F. Weiss, Michael Quintero-Rivera, Fabiola Kimonis, Virginia Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1 |
title | Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1 |
title_full | Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1 |
title_fullStr | Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1 |
title_full_unstemmed | Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1 |
title_short | Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1 |
title_sort | novel variants in the vcp gene causing multisystem proteinopathy 1 |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048343/ https://www.ncbi.nlm.nih.gov/pubmed/36980948 http://dx.doi.org/10.3390/genes14030676 |
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