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

Detalhes bibliográficos
Autor(a) principal: Cappi, Carolina
Data de Publicação: 2014
Outros Autores: Hounie, Ana Gabriela, Mariani, Daniel B., Diniz, Juliana Belo, Silva, Aderbal R. T., Reis, Viviane N. S., Busso, Ariane F., Silva, Amanda Goncalves, Fidalgo, Felipe, Rogatto, Silvia Regina [UNESP], Miguel, Euripedes C., Krepischi, Ana C., Brentani, Helena
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UNESP
Texto Completo: http://dx.doi.org/10.1371/journal.pone.0110198
http://hdl.handle.net/11449/117413
Resumo: Copy 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.
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spelling An Inherited Small Microdeletion at 15q13.3 in a Patient with Early- Onset Obsessive-Compulsive DisorderCopy 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.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Univ Sao Paulo, Sch Med, Inst & Dept Psychiat, Sao Paulo, BrazilUniv Sao Paulo, Inst Math & Stat, Inter Inst Grad Program Bioinformat, Sao Paulo, BrazilAC Camargo Canc Ctr, Int Res Ctr, Sao Paulo, BrazilSao Paulo State Univ, Sch Med, Sao Paulo, BrazilUniv Fed Sao Paulo, UPIA, Sao Paulo, BrazilSao Paulo State Univ, Sch Med, Sao Paulo, BrazilFAPESP: 08/11537-7CNPq: MCT/CNPq 14/2008Public Library ScienceUniversidade de São Paulo (USP)AC Camargo Canc CtrUniversidade Estadual Paulista (Unesp)Universidade Federal de São Paulo (UNIFESP)Cappi, CarolinaHounie, Ana GabrielaMariani, Daniel B.Diniz, Juliana BeloSilva, Aderbal R. T.Reis, Viviane N. S.Busso, Ariane F.Silva, Amanda GoncalvesFidalgo, FelipeRogatto, Silvia Regina [UNESP]Miguel, Euripedes C.Krepischi, Ana C.Brentani, Helena2015-03-18T15:56:04Z2015-03-18T15:56:04Z2014-10-10info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article6application/pdfhttp://dx.doi.org/10.1371/journal.pone.0110198Plos One. San Francisco: Public Library Science, v. 9, n. 10, 6 p., 2014.1932-6203http://hdl.handle.net/11449/11741310.1371/journal.pone.0110198WOS:000343730400121WOS000343730400121.pdf2259986546265579Web of Sciencereponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengPlos One2.7661,164info:eu-repo/semantics/openAccess2024-09-03T14:29:58Zoai:repositorio.unesp.br:11449/117413Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestrepositoriounesp@unesp.bropendoar:29462024-09-03T14:29:58Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false
dc.title.none.fl_str_mv An Inherited Small Microdeletion at 15q13.3 in a Patient with Early- Onset Obsessive-Compulsive Disorder
title An Inherited Small Microdeletion at 15q13.3 in a Patient with Early- Onset Obsessive-Compulsive Disorder
spellingShingle An Inherited Small Microdeletion at 15q13.3 in a Patient with Early- Onset Obsessive-Compulsive Disorder
Cappi, Carolina
title_short An Inherited Small Microdeletion at 15q13.3 in a Patient with Early- Onset Obsessive-Compulsive Disorder
title_full An Inherited Small Microdeletion at 15q13.3 in a Patient with Early- Onset Obsessive-Compulsive Disorder
title_fullStr An Inherited Small Microdeletion at 15q13.3 in a Patient with Early- Onset Obsessive-Compulsive Disorder
title_full_unstemmed An Inherited Small Microdeletion at 15q13.3 in a Patient with Early- Onset Obsessive-Compulsive Disorder
title_sort An Inherited Small Microdeletion at 15q13.3 in a Patient with Early- Onset Obsessive-Compulsive Disorder
author Cappi, Carolina
author_facet Cappi, Carolina
Hounie, Ana Gabriela
Mariani, Daniel B.
Diniz, Juliana Belo
Silva, Aderbal R. T.
Reis, Viviane N. S.
Busso, Ariane F.
Silva, Amanda Goncalves
Fidalgo, Felipe
Rogatto, Silvia Regina [UNESP]
Miguel, Euripedes C.
Krepischi, Ana C.
Brentani, Helena
author_role author
author2 Hounie, Ana Gabriela
Mariani, Daniel B.
Diniz, Juliana Belo
Silva, Aderbal R. T.
Reis, Viviane N. S.
Busso, Ariane F.
Silva, Amanda Goncalves
Fidalgo, Felipe
Rogatto, Silvia Regina [UNESP]
Miguel, Euripedes C.
Krepischi, Ana C.
Brentani, Helena
author2_role author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Universidade de São Paulo (USP)
AC Camargo Canc Ctr
Universidade Estadual Paulista (Unesp)
Universidade Federal de São Paulo (UNIFESP)
dc.contributor.author.fl_str_mv Cappi, Carolina
Hounie, Ana Gabriela
Mariani, Daniel B.
Diniz, Juliana Belo
Silva, Aderbal R. T.
Reis, Viviane N. S.
Busso, Ariane F.
Silva, Amanda Goncalves
Fidalgo, Felipe
Rogatto, Silvia Regina [UNESP]
Miguel, Euripedes C.
Krepischi, Ana C.
Brentani, Helena
description Copy 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.
publishDate 2014
dc.date.none.fl_str_mv 2014-10-10
2015-03-18T15:56:04Z
2015-03-18T15:56:04Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://dx.doi.org/10.1371/journal.pone.0110198
Plos One. San Francisco: Public Library Science, v. 9, n. 10, 6 p., 2014.
1932-6203
http://hdl.handle.net/11449/117413
10.1371/journal.pone.0110198
WOS:000343730400121
WOS000343730400121.pdf
2259986546265579
url http://dx.doi.org/10.1371/journal.pone.0110198
http://hdl.handle.net/11449/117413
identifier_str_mv Plos One. San Francisco: Public Library Science, v. 9, n. 10, 6 p., 2014.
1932-6203
10.1371/journal.pone.0110198
WOS:000343730400121
WOS000343730400121.pdf
2259986546265579
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Plos One
2.766
1,164
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 6
application/pdf
dc.publisher.none.fl_str_mv Public Library Science
publisher.none.fl_str_mv Public Library Science
dc.source.none.fl_str_mv Web of Science
reponame:Repositório Institucional da UNESP
instname:Universidade Estadual Paulista (UNESP)
instacron:UNESP
instname_str Universidade Estadual Paulista (UNESP)
instacron_str UNESP
institution UNESP
reponame_str Repositório Institucional da UNESP
collection Repositório Institucional da UNESP
repository.name.fl_str_mv Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)
repository.mail.fl_str_mv repositoriounesp@unesp.br
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