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Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4–BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature

2020-12-10Journal article Open access
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dc.contributor.authorde Stefano, Maria Chiara
dc.contributor.authorGallagher, Louise
dc.contributor.authorRakic, Severin
dc.contributor.authorJorge, Paula
dc.contributor.authorCuturilo, Goran
dc.contributor.authorMarkovska-Simoska, Silvana
dc.contributor.authorBorg, Isabella
dc.contributor.authorWolstencroft, Jeanne
dc.contributor.authorTümer, Zeynep
dc.contributor.authorHarwood, Adrian J.
dc.contributor.authorKodra, Yllka
dc.contributor.authorSkuse, David
dc.date.accessioned2021-12-09T15:02:30Z
dc.date.available2021-12-09T15:02:30Z
dc.date.issued2020-12-10
dc.description.abstractCopy number variants (CNVs) play an important role in the genetic underpinnings of neuropsychiatric/neurodevelopmental disorders. The chromosomal region 16p11.2 (BP4-BP5) harbours both deletions and duplications that are associated in carriers with neurodevelopmental and neuropsychiatric conditions as well as several rare disorders including congenital malformation syndromes. The aim of this article is to provide a review of the current knowledge of the diverse neurodevelopmental disorders (NDD) associated with 16p11.2 deletions and duplications reported in published cohorts. A literature review was conducted using the PubMed/MEDLINE electronic database limited to papers published in English between 1 January 2010 and 31 July 2020, describing 16p11.2 deletions and duplications carriers' cohorts. Twelve articles meeting inclusion criteria were reviewed from the 75 articles identified by the search. Of these twelve papers, eight described both deletions and duplications, three described deletions only and one described duplications only. This study highlights the heterogeneity of NDD descriptions of the selected cohorts and inconsistencies concerning accuracy of data reporting.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationOliva-Teles N, de Stefano MC, Gallagher L, et al. Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature. Int J Environ Res Public Health. 2020;17(24):9253. doi:10.3390/ijerph17249253pt_PT
dc.identifier.doi10.3390/ijerph17249253pt_PT
dc.identifier.issn1660-4601
dc.identifier.issn1661-7827
dc.identifier.urihttp://hdl.handle.net/10400.16/2648
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherMDPIpt_PT
dc.relation.publisherversionhttps://www.mdpi.com/1660-4601/17/24/9253pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subject16p11.2 deletionpt_PT
dc.subject16p11.2 duplicationpt_PT
dc.subjectBP4–BP5; copy numbers variantspt_PT
dc.subjectneurodevelopmental disorderspt_PT
dc.subjectrare diseasespt_PT
dc.titleRare Pathogenic Copy Number Variation in the 16p11.2 (BP4–BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literaturept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceSwitzerlandpt_PT
oaire.citation.issue24pt_PT
oaire.citation.startPage9253pt_PT
oaire.citation.titleInternational Journal of Environmental Research and Public Healthpt_PT
oaire.citation.volume17pt_PT
person.familyNameJorge
person.givenNamePaula
person.identifier.ciencia-idFD15-9412-CF3F
person.identifier.orcid0000-0002-6507-222X
person.identifier.scopus-author-id7005566496
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication0c5af743-da0c-4063-b8f2-ba0a859e7229
relation.isAuthorOfPublication.latestForDiscovery0c5af743-da0c-4063-b8f2-ba0a859e7229

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