Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications
Autor(a) principal: | |
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Data de Publicação: | 2016 |
Outros Autores: | , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/1822/45011 |
Resumo: | Neurodevelopmental disorders (NDs) encompass a spectrum of neuropsychiatric manifestations. Chromosomal regions 1q21.1, 3q29, 15q11.2, 15q13.3, 16p11.2, 16p13.1 and 22q11 harbour rare but recurrent CNVs that have been uncovered as being important risk factors for several of these disorders. These rearrangements may underlie a broad phenotypical spectrum, ranging from normal development, to learning problems, intellectual disability (ID), epilepsy and psychiatric diseases, such as autism spectrum disorders (ASDs) and schizophrenia (SZ). The highly increased risk of developing neurodevelopmental phenotypes associated with some of these CNVs makes them an unavoidable element in the clinical context in paediatrics, neurology and psychiatry. However, and although finding these risk loci has been the goal of neuropsychiatric genetics for many years, the translation of this recent knowledge into clinical practice has not been trivial. In this article, we will: (1) review the state of the art on recurrent CNVs associated with NDs, namely ASD, ID, epilepsy and SZ; (2) discuss the models used to dissect the underlying neurobiology of disease, (3) discuss how this knowledge can be used in clinical practice. |
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Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implicationsCiências Médicas::Medicina BásicaScience & TechnologyNeurodevelopmental disorders (NDs) encompass a spectrum of neuropsychiatric manifestations. Chromosomal regions 1q21.1, 3q29, 15q11.2, 15q13.3, 16p11.2, 16p13.1 and 22q11 harbour rare but recurrent CNVs that have been uncovered as being important risk factors for several of these disorders. These rearrangements may underlie a broad phenotypical spectrum, ranging from normal development, to learning problems, intellectual disability (ID), epilepsy and psychiatric diseases, such as autism spectrum disorders (ASDs) and schizophrenia (SZ). The highly increased risk of developing neurodevelopmental phenotypes associated with some of these CNVs makes them an unavoidable element in the clinical context in paediatrics, neurology and psychiatry. However, and although finding these risk loci has been the goal of neuropsychiatric genetics for many years, the translation of this recent knowledge into clinical practice has not been trivial. In this article, we will: (1) review the state of the art on recurrent CNVs associated with NDs, namely ASD, ID, epilepsy and SZ; (2) discuss the models used to dissect the underlying neurobiology of disease, (3) discuss how this knowledge can be used in clinical practice.FEDER through the Programa Operacional Factores de Competitividade — COMPETE and by Portuguese national funds through Fundação para a Ciência e TecnologiaBMJ Publishing GroupUniversidade do MinhoTorres, FátimaBarbosa, Mafalda Fernanda Cabral SantosMaciel, P.20162016-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/1822/45011engTorres, F., Barbosa, M., & Maciel, P. (2016). Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications. Journal of Medical Genetics, 53(2), 73-90. doi: 10.1136/jmedgenet-2015-1033660022-25931468-624410.1136/jmedgenet-2015-10336626502893http://jmg.bmj.com/content/early/2015/10/26/jmedgenet-2015-103366.shortinfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-21T12:43:39Zoai:repositorium.sdum.uminho.pt:1822/45011Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T19:41:11.011198Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications |
title |
Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications |
spellingShingle |
Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications Torres, Fátima Ciências Médicas::Medicina Básica Science & Technology |
title_short |
Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications |
title_full |
Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications |
title_fullStr |
Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications |
title_full_unstemmed |
Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications |
title_sort |
Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications |
author |
Torres, Fátima |
author_facet |
Torres, Fátima Barbosa, Mafalda Fernanda Cabral Santos Maciel, P. |
author_role |
author |
author2 |
Barbosa, Mafalda Fernanda Cabral Santos Maciel, P. |
author2_role |
author author |
dc.contributor.none.fl_str_mv |
Universidade do Minho |
dc.contributor.author.fl_str_mv |
Torres, Fátima Barbosa, Mafalda Fernanda Cabral Santos Maciel, P. |
dc.subject.por.fl_str_mv |
Ciências Médicas::Medicina Básica Science & Technology |
topic |
Ciências Médicas::Medicina Básica Science & Technology |
description |
Neurodevelopmental disorders (NDs) encompass a spectrum of neuropsychiatric manifestations. Chromosomal regions 1q21.1, 3q29, 15q11.2, 15q13.3, 16p11.2, 16p13.1 and 22q11 harbour rare but recurrent CNVs that have been uncovered as being important risk factors for several of these disorders. These rearrangements may underlie a broad phenotypical spectrum, ranging from normal development, to learning problems, intellectual disability (ID), epilepsy and psychiatric diseases, such as autism spectrum disorders (ASDs) and schizophrenia (SZ). The highly increased risk of developing neurodevelopmental phenotypes associated with some of these CNVs makes them an unavoidable element in the clinical context in paediatrics, neurology and psychiatry. However, and although finding these risk loci has been the goal of neuropsychiatric genetics for many years, the translation of this recent knowledge into clinical practice has not been trivial. In this article, we will: (1) review the state of the art on recurrent CNVs associated with NDs, namely ASD, ID, epilepsy and SZ; (2) discuss the models used to dissect the underlying neurobiology of disease, (3) discuss how this knowledge can be used in clinical practice. |
publishDate |
2016 |
dc.date.none.fl_str_mv |
2016 2016-01-01T00:00:00Z |
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://hdl.handle.net/1822/45011 |
url |
http://hdl.handle.net/1822/45011 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Torres, F., Barbosa, M., & Maciel, P. (2016). Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications. Journal of Medical Genetics, 53(2), 73-90. doi: 10.1136/jmedgenet-2015-103366 0022-2593 1468-6244 10.1136/jmedgenet-2015-103366 26502893 http://jmg.bmj.com/content/early/2015/10/26/jmedgenet-2015-103366.short |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
BMJ Publishing Group |
publisher.none.fl_str_mv |
BMJ Publishing Group |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
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1799132960143704064 |