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Identification of a new candidate locus for ebstein anomaly in 1p36.2

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dc.creatorMiranda-Fernández, Marta-Catalinaspa
dc.creatorRamírez-Oyaga, Silviaspa
dc.creatorRestrepo Fernández, Carlos Martín
dc.creatorHuertas-Quiñones, Victor-Manuelspa
dc.creatorBarrera-Castañeda, Magallyspa
dc.creatorQuero, Rossispa
dc.creatorHernández-Toro, Camilo-Joséspa
dc.creatorTamar Silva, Claudiaspa
dc.creatorLaissue, Paulspa
dc.creatorCabrera, Rodrigospa
dc.date.accessioned2020-05-25T23:57:11Z
dc.date.available2020-05-25T23:57:11Z
dc.date.created2018spa
dc.description.abstractEbstein anomaly (EA) is a rare congenital heart defect (CHD) with a poorly characterized genetic etiology. However, some EA patients carry deletions in 1p36, all of which have been reported to carry distal deletions and share loss of the PRDM16 gene, which is currently considered the most likely candidate for EA development in this region. Here, we report a patient with an 11.96-Mb proximal 1p36 deletion, without loss of PRDM16, who presented with EA and a proximal deletion phenotype. This finding suggests that PRDM16 loss is not required for the development of EA in 1p36 deletions and that the loss of an additional proximal locus in 1p36 is also likely associated with EA. Our data suggest that a distal locus containing the SKI gene and a proximal locus containing the CHD-associated genes RERE and UBE4B are the most probable etiological factors for EA in patients with 1p36 deletion syndrome. © 2018 S. Karger AG, Basel. All rights reserved.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1159/000488820
dc.identifier.issn16618777
dc.identifier.issn16618769
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22625
dc.language.isoengspa
dc.publisherS. Karger AGspa
dc.relation.citationEndPage169
dc.relation.citationIssueNo. 3
dc.relation.citationStartPage164
dc.relation.citationTitleMolecular Syndromology
dc.relation.citationVolumeVol. 9
dc.relation.ispartofMolecular Syndromology, ISSN:16618777, 16618769, Vol.9, No.3 (2018); pp. 164-169spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85046447701&doi=10.1159%2f000488820&partnerID=40&md5=b42c022ce7a97cebb240cbdf20b35520spa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordZinc finger E box binding homeobox 2spa
dc.subject.keywordArticlespa
dc.subject.keywordBacterial pneumoniaspa
dc.subject.keywordBicuspid aortic valvespa
dc.subject.keywordBirth weightspa
dc.subject.keywordCase reportspa
dc.subject.keywordChildspa
dc.subject.keywordChromosome deletion 22q11spa
dc.subject.keywordClinical articlespa
dc.subject.keywordCranial suturespa
dc.subject.keywordCryptorchismspa
dc.subject.keywordCyanosisspa
dc.subject.keywordDysphagiaspa
dc.subject.keywordEbstein anomalyspa
dc.subject.keywordEchocardiographyspa
dc.subject.keywordEchographyspa
dc.subject.keywordEnteric feedingspa
dc.subject.keywordEye diseasespa
dc.subject.keywordFailure to thrivespa
dc.subject.keywordFunnel chestspa
dc.subject.keywordGastroenteritisspa
dc.subject.keywordGastroesophageal refluxspa
dc.subject.keywordGenespa
dc.subject.keywordGene deletionspa
dc.subject.keywordGene identificationspa
dc.subject.keywordGene locusspa
dc.subject.keywordGene lossspa
dc.subject.keywordHaploinsufficiencyspa
dc.subject.keywordHead circumferencespa
dc.subject.keywordHearing impairmentspa
dc.subject.keywordHeart ventricle septum defectspa
dc.subject.keywordHeightspa
dc.subject.keywordHospital patientspa
dc.subject.keywordHumanspa
dc.subject.keywordHydramniosspa
dc.subject.keywordHypothyroidismspa
dc.subject.keywordIntellectual impairmentspa
dc.subject.keywordIntelligence quotientspa
dc.subject.keywordKeratoconusspa
dc.subject.keywordLeukorrheaspa
dc.subject.keywordMalespa
dc.subject.keywordMicroarray analysisspa
dc.subject.keywordMuscle hypotoniaspa
dc.subject.keywordNuclear magnetic resonance imagingspa
dc.subject.keywordPhenotypespa
dc.subject.keywordPhotophobiaspa
dc.subject.keywordPhysical examinationspa
dc.subject.keywordPRDM16 genespa
dc.subject.keywordPreschool childspa
dc.subject.keywordPriority journalspa
dc.subject.keywordPulmonary valve stenosisspa
dc.subject.keywordSeizurespa
dc.subject.keywordSKI genespa
dc.subject.keywordSubarachnoid spacespa
dc.subject.keywordSupraventricular tachycardiaspa
dc.subject.keywordTricuspid valve regurgitationspa
dc.subject.keywordWilson diseasespa
dc.titleIdentification of a new candidate locus for ebstein anomaly in 1p36.2spa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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