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 |
ResultId |
1 |
---|---|
Header |
edsoai OAIster edsoai.on1391580985 923 3 Electronic Resource electronicResource 923.149658203125 |
PLink |
https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&scope=site&db=edsoai&AN=edsoai.on1391580985&custid=s6537998&authtype=sso |
FullText |
Array
(
[Availability] => 0
)
Array ( [0] => Array ( [Url] => https://escholarship.org/uc/item/4dj0h013# [Name] => EDS - OAIster [Category] => fullText [Text] => View record in OAIster [MouseOverText] => View record in OAIster ) ) |
Items |
Array
(
[Name] => Title
[Label] => Title
[Group] => Ti
[Data] => Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1.
)
Array ( [Name] => Author [Label] => Authors [Group] => Au [Data] => <searchLink fieldCode="AR" term="%22Columbres%2C+Rod+Carlo+Agram%22">Columbres, Rod Carlo Agram</searchLink> ) Array ( [Name] => TitleSource [Label] => Source [Group] => Src [Data] => Genes; vol 14, iss 3, 676; 2073-4425 ) Array ( [Name] => PublisherInfo [Label] => Publisher Information [Group] => [Data] => eScholarship, University of California 2023-03-01 ) Array ( [Name] => Note [Label] => Added Details [Group] => [Data] => Columbres, Rod Carlo Agram<br />Chin, Yue<br />Pratti, Sanjana<br />Quinn, Colin<br />Gonzalez-Cuyar, Luis F<br />Weiss, Michael<br />Quintero-Rivera, Fabiola<br />Kimonis, Virginia ) Array ( [Name] => TypeDocument [Label] => Document Type [Group] => TypDoc [Data] => Electronic Resource ) Array ( [Name] => Abstract [Label] => Abstract [Group] => Ab [Data] => 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. ) Array ( [Name] => Subject [Label] => Index Terms [Group] => Su [Data] => <searchLink fieldCode="DE" term="%22Humans%22">Humans</searchLink><br /><searchLink fieldCode="DE" term="%22Osteitis+Deformans%22">Osteitis Deformans</searchLink><br /><searchLink fieldCode="DE" term="%22Myositis%22">Myositis</searchLink><br /><searchLink fieldCode="DE" term="%22Inclusion+Body%22">Inclusion Body</searchLink><br /><searchLink fieldCode="DE" term="%22Amyotrophic+Lateral+Sclerosis%22">Amyotrophic Lateral Sclerosis</searchLink><br /><searchLink fieldCode="DE" term="%22Cell+Cycle+Proteins%22">Cell Cycle Proteins</searchLink><br /><searchLink fieldCode="DE" term="%22Merozoite+Surface+Protein+1%22">Merozoite Surface Protein 1</searchLink><br /><searchLink fieldCode="DE" term="%22Adult%22">Adult</searchLink><br /><searchLink fieldCode="DE" term="%22Frontotemporal+Dementia%22">Frontotemporal Dementia</searchLink><br /><searchLink fieldCode="DE" term="%22Valosin+Containing+Protein%22">Valosin Containing Protein</searchLink><br /><searchLink fieldCode="DE" term="%22ALS%22">ALS</searchLink><br /><searchLink fieldCode="DE" term="%22IBMPFD%22">IBMPFD</searchLink><br /><searchLink fieldCode="DE" term="%22MSP1%22">MSP1</searchLink><br /><searchLink fieldCode="DE" term="%22VCP%22">VCP</searchLink><br /><searchLink fieldCode="DE" term="%22multisystem+proteinopathy-1%22">multisystem proteinopathy-1</searchLink><br /><searchLink fieldCode="DE" term="%22valosin-containing+protein%22">valosin-containing protein</searchLink><br /><searchLink fieldCode="DE" term="%22Neurodegenerative%22">Neurodegenerative</searchLink><br /><searchLink fieldCode="DE" term="%22Rare+Diseases%22">Rare Diseases</searchLink><br /><searchLink fieldCode="DE" term="%22Aging%22">Aging</searchLink><br /><searchLink fieldCode="DE" term="%22Brain+Disorders%22">Brain Disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Genetics%22">Genetics</searchLink><br /><searchLink fieldCode="DE" term="%222%2E1+Biological+and+endogenous+factors%22">2.1 Biological and endogenous factors</searchLink><br /><searchLink fieldCode="DE" term="%22Aetiology%22">Aetiology</searchLink><br /><searchLink fieldCode="DE" term="%22Neurological%22">Neurological</searchLink><br /><searchLink fieldCode="DE" term="%22article%22">article</searchLink> ) Array ( [Name] => URL [Label] => URL [Group] => URL [Data] => <externalLink term="https://escholarship.org/uc/item/4dj0h013">https://escholarship.org/uc/item/4dj0h013</externalLink><br /><externalLink term="https://escholarship.org/">https://escholarship.org/</externalLink> ) Array ( [Name] => Avail [Label] => Availability [Group] => [Data] => Open access content. Open access content<br />public ) Array ( [Name] => Note [Label] => Note [Group] => [Data] => application/pdf<br />Genes vol 14, iss 3, 676 2073-4425 ) Array ( [Name] => NumberOther [Label] => Other Numbers [Group] => [Data] => CDLER oai:escholarship.org:ark:/13030/qt4dj0h013<br />qt4dj0h013<br />https://escholarship.org/uc/item/4dj0h013<br />https://escholarship.org/<br />1391580985 ) Array ( [Name] => OtherAuthors [Label] => Contributing Source [Group] => [Data] => UC MASS DIGITIZATION<br />From OAIster®, provided by the OCLC Cooperative. ) Array ( [Name] => AN [Label] => Accession Number [Group] => ID [Data] => edsoai.on1391580985 ) |
RecordInfo |
Array
(
[BibEntity] => Array
(
[Titles] => Array
(
[0] => Array
(
[TitleFull] => Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1.
[Type] => main
)
)
)
[BibRelationships] => Array
(
[HasContributorRelationships] => Array
(
[0] => Array
(
[PersonEntity] => Array
(
[Name] => Array
(
[NameFull] => Columbres, Rod Carlo Agram
)
)
)
[1] => Array
(
[PersonEntity] => Array
(
[Name] => Array
(
[NameFull] => Columbres, Rod Carlo Agram
)
)
)
)
[IsPartOfRelationships] => Array
(
[0] => Array
(
[BibEntity] => Array
(
[Dates] => Array
(
[0] => Array
(
[D] => 01
[M] => 01
[Type] => published
[Y] => 2023
)
)
[Identifiers] => Array
(
[0] => Array
(
[Type] => issn-locals
[Value] => edsoaiOpen
)
)
)
)
)
)
)
|
IllustrationInfo |