{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T21:17:42Z","timestamp":1788470262943,"version":"build-2803163510"},"reference-count":69,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,3,8]],"date-time":"2023-03-08T00:00:00Z","timestamp":1678233600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Inclusion body myopathy Research Fund"},{"name":"University of California, Irvine"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>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\u2019s 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&gt;C (p.I369T), c.478G&gt;A (p.A160T), and c.760A&gt;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.<\/jats:p>","DOI":"10.3390\/genes14030676","type":"journal-article","created":{"date-parts":[[2023,3,9]],"date-time":"2023-03-09T02:33:16Z","timestamp":1678329196000},"page":"676","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4134-6054","authenticated-orcid":false,"given":"Rod Carlo Agram","family":"Columbres","sequence":"first","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, CA 92697, USA"},{"name":"College of Osteopathic Medicine, William Carey University, Hattiesburg, MS 39401, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yue","family":"Chin","sequence":"additional","affiliation":[{"name":"College of Osteopathic Medicine, William Carey University, Hattiesburg, MS 39401, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjana","family":"Pratti","sequence":"additional","affiliation":[{"name":"College of Osteopathic Medicine, William Carey University, Hattiesburg, MS 39401, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin","family":"Quinn","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8424-8331","authenticated-orcid":false,"given":"Luis F.","family":"Gonzalez-Cuyar","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4064-1032","authenticated-orcid":false,"given":"Michael","family":"Weiss","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Washington, Seattle, WA 98195, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabiola","family":"Quintero-Rivera","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, CA 92697, USA"},{"name":"Department of Pathology and Laboratory Medicine, University of California, Irvine, CA 92697, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1567-4449","authenticated-orcid":false,"given":"Virginia","family":"Kimonis","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, CA 92697, USA"},{"name":"Department of Neurology, University of California, Irvine, CA 92697, USA"},{"name":"Department of Pathology, University of California, Irvine, CA 92697, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1097\/00125817-200007000-00006","article-title":"Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone","volume":"2","author":"Kimonis","year":"2000","journal-title":"Genet. 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