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Genomic imbalances defining novel intellectual disability associated loci

2019Journal article Open access
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dc.contributor.authorLopes, Fátima
dc.contributor.authorTorres, Fátima
dc.contributor.authorSoares, Gabriela
dc.contributor.authorBarbosa, Mafalda
dc.contributor.authorSilva, João
dc.contributor.authorDuque, Frederico
dc.contributor.authorRocha, Miguel
dc.contributor.authorSá, Joaquim
dc.contributor.authorOliveira, Guiomar
dc.contributor.authorSá, Maria João
dc.contributor.authorTemudo, Teresa
dc.contributor.authorSousa, Susana
dc.contributor.authorMarques, Carla
dc.contributor.authorLopes, Sofia
dc.contributor.authorGomes, Catarina
dc.contributor.authorBarros, Gisela
dc.contributor.authorJorge, Arminda
dc.contributor.authorRocha, Felisbela
dc.contributor.authorMartins, Cecília
dc.contributor.authorMesquita, Sandra
dc.contributor.authorLoureiro, Susana
dc.contributor.authorCardoso, Elisa Maria
dc.contributor.authorCálix, Maria José
dc.contributor.authorDias, Andreia
dc.contributor.authorMartins, Cristina
dc.contributor.authorMota, Céu R
dc.contributor.authorAntunes, Diana
dc.contributor.authorDupont, Juliette
dc.contributor.authorFigueiredo, Sara
dc.contributor.authorFigueiroa, Sónia
dc.contributor.authorGama-de-Sousa, Susana
dc.contributor.authorCruz, Sara
dc.contributor.authorSampaio, Adriana
dc.contributor.authorEijk, Paul
dc.contributor.authorWeiss, Marjan M
dc.contributor.authorYlstra, Bauke
dc.contributor.authorRendeiro, Paula
dc.contributor.authorTavares, Purificação
dc.contributor.authorReis-Lima, Margarida
dc.contributor.authorPinto-Basto, Jorge
dc.contributor.authorFortuna, Ana Maria
dc.contributor.authorMaciel, Patrícia
dc.date.accessioned2020-07-14T15:02:40Z
dc.date.available2020-07-14T15:02:40Z
dc.date.issued2019
dc.description.abstractBackground: High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a cohort of 325 Portuguese patients with intellectual disability (ID). Results: We have detected CNVs in 30.1% of the patients, of which 5.2% corresponded to novel likely pathogenic CNVs. For these 11 rare CNVs (which encompass novel ID candidate genes), we identified those most likely to be relevant, and established genotype-phenotype correlations based on detailed clinical assessment. In the case of duplications, we performed expression analysis to assess the impact of the rearrangement. Interestingly, these novel candidate genes belong to known ID-related pathways. Within the 8% of patients with CNVs in known pathogenic loci, the majority had a clinical presentation fitting the phenotype(s) described in the literature, with a few interesting exceptions that are discussed. Conclusions: Identification of such rare CNVs (some of which reported for the first time in ID patients/families) contributes to our understanding of the etiology of ID and for the ever-improving diagnosis of this group of patients.pt_PT
dc.description.sponsorshipThis work has been funded by FEDER funds, through the Competitiveness Factors Operational Programme (COMPETE), and by National funds, through the Foundation for Science and Technology (FCT), under the scope of the projects: PIC/IC/83026/2007, PIC/IC/83013/2007 and POCI-01-0145-FEDER-007038. This work has also been funded by the project NORTE-01-0145-FEDER-000013, supported by the Northern Portugal Regional Operational Programme (NORTE 2020), under the Portugal 2020 Partnership Agreement, through the European Regional Development Fund (FEDER). FL was supported by Foundation for Science and Technology (FCT) through the fellowship SFRH/BD/90167/2012pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationLopes F, Torres F, Soares G, et al. Genomic imbalances defining novel intellectual disability associated loci. Orphanet J Rare Dis. 2019;14(1):164. Published 2019 Jul 5. doi:10.1186/s13023-019-1135-0pt_PT
dc.identifier.doi10.1186/s13023-019-1135-0pt_PT
dc.identifier.issn1750-1172
dc.identifier.urihttp://hdl.handle.net/10400.16/2428
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherBMCpt_PT
dc.relationIdiopathic mental retardation: evaluation of a CGH microarray strategy for genetic diagnosis
dc.relationFINDING NOVEL GENES FOR INTELLECTUAL DISABILITY BY WHOLE EXOME SEQUENCING
dc.relation.publisherversionhttps://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1135-0pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectCNVspt_PT
dc.subjectNeurodevelopmentpt_PT
dc.subjectGenotype-phenotype correlationpt_PT
dc.subjectCUL4B overexpressionpt_PT
dc.titleGenomic imbalances defining novel intellectual disability associated locipt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleIdiopathic mental retardation: evaluation of a CGH microarray strategy for genetic diagnosis
oaire.awardTitleFINDING NOVEL GENES FOR INTELLECTUAL DISABILITY BY WHOLE EXOME SEQUENCING
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/5876-PPCDTI/PIC%2FIC%2F83026%2F2007/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/5876-PPCDTI/PIC%2FIC%2F83013%2F2007/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT//SFRH%2FBD%2F90167%2F2012/PT
oaire.citation.conferencePlaceEnglandpt_PT
oaire.citation.issue1pt_PT
oaire.citation.startPage164pt_PT
oaire.citation.titleOrphanet journal of rare diseasespt_PT
oaire.citation.volume14pt_PT
oaire.fundingStream5876-PPCDTI
oaire.fundingStream5876-PPCDTI
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isProjectOfPublication8933ea40-5fc7-4a7b-a2eb-bb4419d3b275
relation.isProjectOfPublication1e1f5966-1407-4199-a172-7d70ff486f30
relation.isProjectOfPublication1de3d056-7570-47ec-9a4f-b93e2f3af25a
relation.isProjectOfPublication.latestForDiscovery1de3d056-7570-47ec-9a4f-b93e2f3af25a

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