دورية أكاديمية
أعرض في EDS

Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1

التفاصيل البيبلوغرافية
العنوان: Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1
المؤلفون: Rod Carlo Agram Columbres, Yue Chin, Sanjana Pratti, Colin Quinn, Luis F. Gonzalez-Cuyar, Michael Weiss, Fabiola Quintero-Rivera, Virginia Kimonis
المصدر: Genes, Vol 14, Iss 3, p 676 (2023)
بيانات النشر: MDPI AG, 2023.
سنة النشر: 2023
المجموعة: LCC:Genetics
مصطلحات موضوعية: valosin-containing protein, VCP, IBMPFD, ALS, multisystem proteinopathy-1, MSP1, Genetics, QH426-470
الوصف: 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.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2073-4425
20458827
Relation: https://www.mdpi.com/2073-4425/14/3/676; https://doaj.org/toc/2073-4425
DOI: 10.3390/genes14030676
URL الوصول: https://doaj.org/article/20458827774241ae9281b8a5ace7d6d9
رقم الأكسشن: edsdoj.20458827774241ae9281b8a5ace7d6d9
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:20734425
20458827
DOI:10.3390/genes14030676