An Inherited Small Microdeletion at 15q13.3 in a Patient with Early- Onset Obsessive-Compulsive Disorder
Autor(a) principal: | |
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Data de Publicação: | 2014 |
Outros Autores: | , , , , , , , , , , , |
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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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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1814268452889690112 |