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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...

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Autores principales: Columbres, Rod Carlo Agram, Chin, Yue, Pratti, Sanjana, Quinn, Colin, Gonzalez-Cuyar, Luis F., Weiss, Michael, Quintero-Rivera, Fabiola, Kimonis, Virginia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
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.
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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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