مورد إلكتروني
Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1.
| العنوان: | Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1. |
|---|---|
| المؤلفون: | Columbres, Rod Carlo Agram |
| المصدر: | Genes; vol 14, iss 3, 676; 2073-4425 |
| بيانات النشر: | eScholarship, University of California 2023-03-01 |
| تفاصيل مُضافة: | Columbres, Rod Carlo Agram Chin, Yue Pratti, Sanjana Quinn, Colin Gonzalez-Cuyar, Luis F Weiss, Michael Quintero-Rivera, Fabiola Kimonis, Virginia |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | 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. |
| مصطلحات الفهرس: | Humans, Osteitis Deformans, Myositis, Inclusion Body, Amyotrophic Lateral Sclerosis, Cell Cycle Proteins, Merozoite Surface Protein 1, Adult, Frontotemporal Dementia, Valosin Containing Protein, ALS, IBMPFD, MSP1, VCP, multisystem proteinopathy-1, valosin-containing protein, Neurodegenerative, Rare Diseases, Aging, Brain Disorders, Genetics, 2.1 Biological and endogenous factors, Aetiology, Neurological, article |
| URL: | |
| الإتاحة: | Open access content. Open access content public |
| ملاحظة: | application/pdf Genes vol 14, iss 3, 676 2073-4425 |
| أرقام أخرى: | CDLER oai:escholarship.org:ark:/13030/qt4dj0h013 qt4dj0h013 https://escholarship.org/uc/item/4dj0h013Test https://escholarship.orgTest/ 1391580985 |
| المصدر المساهم: | UC MASS DIGITIZATION From OAIster®, provided by the OCLC Cooperative. |
| رقم الانضمام: | edsoai.on1391580985 |
| قاعدة البيانات: | OAIster |
| الوصف غير متاح. |