Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorVILLELA, Darine
dc.contributor.authorKIMURA, Lilian
dc.contributor.authorSCHLESINGER, David
dc.contributor.authorGONCALVES, Amanda
dc.contributor.authorPEARSON, Peter L.
dc.contributor.authorSUEMOTO, Claudia K.
dc.contributor.authorPASQUALUCCI, Carlos
dc.contributor.authorKREPISCHI, Ana Cristina
dc.contributor.authorGRINBERG, Lea T.
dc.contributor.authorROSENBERG, Carla
dc.date.accessioned2014-04-25T21:50:17Z
dc.date.available2014-04-25T21:50:17Z
dc.date.issued2013
dc.description.abstractArgyrophilic grain disease (AGD) is a progressive neurodegenerative disease of the human brain that has never been associated to a particular gene locus. In the present study, we report the results of a CNV investigation in 29 individuals whose anatomopathologic investigation of the brain showed AGD. Rare CNVs were identified in six patients (21%), in particular a 40 kb deletion at 17p13.2 encompassing the CTNS gene. Homozygote mutations in CTNS are known to cause cystinosis, a disorder characterized by the intralysosomal accumulation of cystine in all tissues. We present the first CNV results in individuals presenting AGD and a possible candidate gene implicated in the disorder.
dc.description.indexPubMed
dc.description.sponsorshipFAPESP grant CR [2009/00898-1]
dc.description.sponsorshipFAPESP PhD fellowship [2010/15503-0]
dc.identifier.citationGENETICS AND MOLECULAR BIOLOGY, v.36, n.4, p.498-501, 2013
dc.identifier.doi10.1590/S1415-47572013000400006
dc.identifier.eissn1678-4685
dc.identifier.issn1415-4757
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/5070
dc.language.isoeng
dc.publisherSOC BRASIL GENETICA
dc.relation.ispartofGenetics and Molecular Biology
dc.rightsopenAccess
dc.rights.holderCopyright SOC BRASIL GENETICA
dc.subjectArgyrophilic grain disease
dc.subjectcopy number variations
dc.subjectCNVs
dc.subjectarray-CGH
dc.subjectCTNS
dc.subject.othernephropathic cystinosis
dc.subject.otheronset dementia
dc.subject.otheraccumulation
dc.subject.otherdeficits
dc.subject.otherchildren
dc.subject.wosBiochemistry & Molecular Biology
dc.subject.wosGenetics & Heredity
dc.titleGermline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene
dc.typearticle
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.author.externalVILLELA, Darine:Univ Sao Paulo, Inst Biosci, Dept Genet & Evolutionary Biol, BR-05508090 Sao Paulo, Brazil
hcfmusp.author.externalKIMURA, Lilian:Univ Sao Paulo, Inst Biosci, Dept Genet & Evolutionary Biol, BR-05508090 Sao Paulo, Brazil
hcfmusp.author.externalSCHLESINGER, David:Inst Israelita Ensino & Pesquisa Albert Einstein, Sao Paulo, Brazil
hcfmusp.author.externalGONCALVES, Amanda:Hosp AC Camargo Fund Antonio Prudente, Inst Nacl Ciencia & Tecnol Oncogen, Sao Paulo, Brazil
hcfmusp.author.externalPEARSON, Peter L.:Univ Sao Paulo, Inst Biosci, Dept Genet & Evolutionary Biol, BR-05508090 Sao Paulo, Brazil
hcfmusp.author.externalKREPISCHI, Ana Cristina:Hosp AC Camargo Fund Antonio Prudente, Inst Nacl Ciencia & Tecnol Oncogen, Sao Paulo, Brazil
hcfmusp.author.externalROSENBERG, Carla:Univ Sao Paulo, Inst Biosci, Dept Genet & Evolutionary Biol, BR-05508090 Sao Paulo, Brazil
hcfmusp.citation.scopus7
hcfmusp.contributor.author-fmusphcCLAUDIA KIMIE SUEMOTO
hcfmusp.contributor.author-fmusphcCARLOS AUGUSTO GONCALVES PASQUALUCCI
hcfmusp.contributor.author-fmusphcLEA TENENHOLZ GRINBERG
hcfmusp.description.beginpage498
hcfmusp.description.endpage501
hcfmusp.description.issue4
hcfmusp.description.volume36
hcfmusp.origemWOS
hcfmusp.origem.pubmed24385851
hcfmusp.origem.scieloSCIELO:S1415-47572013000400006
hcfmusp.origem.scopus2-s2.0-84890365974
hcfmusp.origem.wosWOS:000328702800006
hcfmusp.publisher.cityRIBEIRAO PRET
hcfmusp.publisher.countryBRAZIL
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hcfmusp.remissive.sponsorshipFAPESP
hcfmusp.scopus.lastupdate2024-05-10
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