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The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review

2019Journal article Open access
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dc.contributor.authorLopes, F
dc.contributor.authorTorres, F
dc.contributor.authorSoares, G
dc.contributor.authorvan Karnebeek, CD
dc.contributor.authorMartins, C
dc.contributor.authorAntunes, D
dc.contributor.authorSilva, J
dc.contributor.authorMuttucomaroe, L
dc.contributor.authorBotelho, LF
dc.contributor.authorSousa, S
dc.contributor.authorRendeiro, P
dc.contributor.authorTavares, P
dc.contributor.authorVan Esch, H
dc.contributor.authorRajcan-Separovic, E
dc.contributor.authorMaciel, P
dc.date.accessioned2019-03-15T15:43:23Z
dc.date.available2019-03-15T15:43:23Z
dc.date.issued2019
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.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationFront Genet. 2019 Feb 22;10:58pt_PT
dc.identifier.doi10.3389/fgene.2019.00058pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/3201
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherFrontiers Mediapt_PT
dc.subject1q43-q44 CNVspt_PT
dc.subjectAKT3pt_PT
dc.subjectSDCCAG8pt_PT
dc.subjectSDCCAG8pt_PT
dc.subjectMacrocephalypt_PT
dc.subjectMicrocephalypt_PT
dc.subjectPhenotypic Expressivitypt_PT
dc.subjectHDE GENpt_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.citation.startPage58pt_PT
oaire.citation.volume10pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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