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 [UNIFESP], 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, Miguel, Euripedes C., Krepischi, Ana C., Brentani, Helena
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UNIFESP
Texto Completo: http://dx.doi.org/10.1371/journal.pone.0110198
http://repositorio.unifesp.br/handle/11600/38329
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.Univ São Paulo, Sch Med, Inst & Dept Psychiat, São Paulo, BrazilUniv São Paulo, Inst Math & Stat, Inter Inst Grad Program Bioinformat, São Paulo, BrazilAC Camargo Canc Ctr, Int Res Ctr, São Paulo, BrazilSão Paulo State Univ, Sch Med, São Paulo, BrazilUniversidade Federal de São Paulo, UPIA, São Paulo, BrazilUniversidade Federal de São Paulo, EPM, UPIA, São Paulo, BrazilWeb of ScienceFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)FAPESP: 2008/11537-7CNPq: MCT/CNPq 14/2008Public Library ScienceUniversidade de São Paulo (USP)AC Camargo Canc CtrUniversidade Federal de São Paulo (UNIFESP)Cappi, CarolinaHounie, Ana Gabriela [UNIFESP]Mariani, Daniel B.Diniz, Juliana BeloSilva, Aderbal R. T.Reis, Viviane N. S.Busso, Ariane F.Silva, Amanda GoncalvesFidalgo, FelipeRogatto, Silvia ReginaMiguel, Euripedes C.Krepischi, Ana C.Brentani, Helena2016-01-24T14:38:00Z2016-01-24T14:38:00Z2014-10-10info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion6application/pdfhttp://dx.doi.org/10.1371/journal.pone.0110198Plos One. San Francisco: Public Library Science, v. 9, n. 10, 6 p., 2014.10.1371/journal.pone.0110198WOS000343730400121.pdf1932-6203http://repositorio.unifesp.br/handle/11600/38329WOS:000343730400121engPlos Oneinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP2024-10-14T10:29:42Zoai:repositorio.unifesp.br/:11600/38329Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestbiblioteca.csp@unifesp.bropendoar:34652024-10-14T10:29:42Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)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 [UNIFESP]
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
Miguel, Euripedes C.
Krepischi, Ana C.
Brentani, Helena
author_role author
author2 Hounie, Ana Gabriela [UNIFESP]
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
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 Federal de São Paulo (UNIFESP)
dc.contributor.author.fl_str_mv Cappi, Carolina
Hounie, Ana Gabriela [UNIFESP]
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
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
2016-01-24T14:38:00Z
2016-01-24T14:38:00Z
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
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.
10.1371/journal.pone.0110198
WOS000343730400121.pdf
1932-6203
http://repositorio.unifesp.br/handle/11600/38329
WOS:000343730400121
url http://dx.doi.org/10.1371/journal.pone.0110198
http://repositorio.unifesp.br/handle/11600/38329
identifier_str_mv Plos One. San Francisco: Public Library Science, v. 9, n. 10, 6 p., 2014.
10.1371/journal.pone.0110198
WOS000343730400121.pdf
1932-6203
WOS:000343730400121
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Plos One
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 reponame:Repositório Institucional da UNIFESP
instname:Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESP
instname_str Universidade Federal de São Paulo (UNIFESP)
instacron_str UNIFESP
institution UNIFESP
reponame_str Repositório Institucional da UNIFESP
collection Repositório Institucional da UNIFESP
repository.name.fl_str_mv Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)
repository.mail.fl_str_mv biblioteca.csp@unifesp.br
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