An Inherited Small Microdeletion at 15q13.3 in a Patient with Early- Onset Obsessive-Compulsive Disorder

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dc.contributor.authorCappi, Carolina
dc.contributor.authorHounie, Ana Gabriela
dc.contributor.authorMariani, Daniel B.
dc.contributor.authorDiniz, Juliana Belo
dc.contributor.authorSilva, Aderbal R. T.
dc.contributor.authorReis, Viviane N. S.
dc.contributor.authorBusso, Ariane F.
dc.contributor.authorSilva, Amanda Goncalves
dc.contributor.authorFidalgo, Felipe
dc.contributor.authorRogatto, Silvia Regina [UNESP]
dc.contributor.authorMiguel, Euripedes C.
dc.contributor.authorKrepischi, Ana C.
dc.contributor.authorBrentani, Helena
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionAC Camargo Canc Ctr
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.date.accessioned2015-03-18T15:56:04Z
dc.date.available2015-03-18T15:56:04Z
dc.date.issued2014-10-10
dc.description.abstractCopy number variations (CNVs) have been previously associated with several different neurodevelopmen al psychiatric disorders, such as autism, schizophrenia, and attention deficit hyperactivity disorder (ADHD). The present study consisted of pilot genorne-wide screen for CNVs in a cohort of 16 patients with early-onset obsessive-compulsive disorder (OCD) and 2 mentally healthy individuals, using array-based comparative enomic hybridization (aCGH) on 44K arrays. A small rare nal inherited microdeletion (-64 kb) was identified in chromosome 15q13.3 of one male patient with very early onset have OCD. The deletion encompassed part of the FA/IN1 gene, which is involved with the glutamatergic system This finding supports the hypothesis of a complex network of several genes expressed in the brain cant ibuting for h genetic risk of OCD, and also supports the glutamatergic involvement in OCD, which has been previsously reported in the literature.en
dc.description.affiliationUniv Sao Paulo, Sch Med, Inst & Dept Psychiat, Sao Paulo, Brazil
dc.description.affiliationUniv Sao Paulo, Inst Math & Stat, Inter Inst Grad Program Bioinformat, Sao Paulo, Brazil
dc.description.affiliationAC Camargo Canc Ctr, Int Res Ctr, Sao Paulo, Brazil
dc.description.affiliationSao Paulo State Univ, Sch Med, Sao Paulo, Brazil
dc.description.affiliationUniv Fed Sao Paulo, UPIA, Sao Paulo, Brazil
dc.description.affiliationUnespSao Paulo State Univ, Sch Med, Sao Paulo, Brazil
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.description.sponsorshipConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.description.sponsorshipIdFAPESP: 08/11537-7
dc.description.sponsorshipIdCNPq: MCT/CNPq 14/2008
dc.format.extent6
dc.identifierhttp://dx.doi.org/10.1371/journal.pone.0110198
dc.identifier.citationPlos One. San Francisco: Public Library Science, v. 9, n. 10, 6 p., 2014.
dc.identifier.doi10.1371/journal.pone.0110198
dc.identifier.fileWOS000343730400121.pdf
dc.identifier.issn1932-6203
dc.identifier.lattes2259986546265579
dc.identifier.urihttp://hdl.handle.net/11449/117413
dc.identifier.wosWOS:000343730400121
dc.language.isoeng
dc.publisherPublic Library Science
dc.relation.ispartofPlos One
dc.relation.ispartofjcr2.766
dc.relation.ispartofsjr1,164
dc.rights.accessRightsAcesso aberto
dc.sourceWeb of Science
dc.titleAn Inherited Small Microdeletion at 15q13.3 in a Patient with Early- Onset Obsessive-Compulsive Disorderen
dc.typeArtigo
dcterms.rightsHolderPublic Library Science
unesp.author.lattes2259986546265579
unesp.campusUniversidade Estadual Paulista (Unesp), Faculdade de Medicina, Botucatupt

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