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The role of AKT3 copy number changes in brain abnormalities and neurodevelopmental disorders: four new cases and literature review

2019-02-22Artigo científico Acesso aberto
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dc.contributor.authorLopes, Fátima
dc.contributor.authorTorres, Fátima
dc.contributor.authorSoares, Gabriela
dc.contributor.authorvan Karnebeek, Clara D.
dc.contributor.authorMartins, Cecília
dc.contributor.authorAntunes, Diana
dc.contributor.authorSilva, João
dc.contributor.authorMuttucomaroe, Lauren
dc.contributor.authorBotelho, Luís Filipe
dc.contributor.authorSousa, Susana
dc.contributor.authorRendeiro, Paula
dc.contributor.authorTavares, Purificação
dc.contributor.authorVan Esch, Hilde
dc.contributor.authorRajcan-Separovic, Evica
dc.contributor.authorMaciel, Patrícia
dc.date.accessioned2020-05-06T16:43:36Z
dc.date.available2020-05-06T16:43:36Z
dc.date.issued2019-02-22
dc.description.abstractMicrodeletions at 1q43-q44 have been described as resulting in a clinically recognizable phenotype of intellectual disability (ID), facial dysmorphisms and microcephaly (MIC). In contrast, the reciprocal microduplications of 1q43-q44 region have been less frequently reported and patients showed a variable phenotype, including macrocephaly. Reports of a large number of patients with copy number variations involving this region highlighted the AKT3 gene as a likely key player in head size anomalies. We report four novel patients with copy number variations in the 1q43-q44 region: one with a larger deletion (3.7Mb), two with smaller deletions affecting AKT3 and SDCCAG8 genes (0.16 and 0.18Mb) and one with a quadruplication (1Mb) that affects the entire AKT3 gene. All patients with deletions presented MIC without structural brain abnormalities, whereas the patient with quadruplication had macrocephaly, but his carrier father had normal head circumference. Our report also includes a comparison of phenotypes in cases with 1q43-q44 duplications to assist future genotype-phenotype correlations. Our observations implicate AKT3 as a contributor to ID/development delay (DD) and head size but raise doubts about its straightforward impact on the latter aspect of the phenotype in patients with 1q43-q44 deletion/duplication syndrome.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. The 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/90167/2012.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationFront Genet. 2019 Feb 22;10:58. doi: 10.3389/fgene.2019.00058. eCollection 2019.pt_PT
dc.identifier.doi10.3389/fgene.2019.00058pt_PT
dc.identifier.issn1664-8021
dc.identifier.urihttp://hdl.handle.net/10400.18/6607
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherFrontiers Mediapt_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://www.frontiersin.org/articles/10.3389/fgene.2019.00058/fullpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/pt_PT
dc.subject1q43-q44 CNVspt_PT
dc.subjectAKT3pt_PT
dc.subjectSDCCAG8pt_PT
dc.subjectZBTB18pt_PT
dc.subjectMacrocephalypt_PT
dc.subjectMicrocephalypt_PT
dc.subjectPhenotypic Expressivitypt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleThe role of AKT3 copy number changes in brain abnormalities and neurodevelopmental disorders: four new cases and literature reviewpt_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.startPage58pt_PT
oaire.citation.titleFrontiers in Geneticspt_PT
oaire.citation.volume10pt_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.isProjectOfPublicationaf4bd132-126c-4dec-80ef-b3d8d8e28340
relation.isProjectOfPublication2d98f751-1953-4fea-8122-ea7f8d36e989
relation.isProjectOfPublication7044da85-4237-46a4-91c5-3df224fb8353
relation.isProjectOfPublication.latestForDiscoveryaf4bd132-126c-4dec-80ef-b3d8d8e28340

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