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CITED2 mutations potentially cause idiopathic premature ovarian failure

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dc.creatorFonseca Mendoza, Dora Janeth
dc.creatorOjeda, Diegospa
dc.creatorLakhal, Besmaspa
dc.creatorBraham, Rimspa
dc.creatorEggers, Stefaniespa
dc.creatorTurbitt, Erinspa
dc.creatorWhite, Stefanspa
dc.creatorGrover, Soniaspa
dc.creatorWarne, Garryspa
dc.creatorZacharin, Margaretspa
dc.creatorLam, Alexandra Nevinspa
dc.creatorLandolsi, Hanènespa
dc.creatorElghezal, Hatemspa
dc.creatorSaâd, Alispa
dc.creatorRestrepo Fernández, Carlos Martín
dc.creatorFellous, Marcspa
dc.creatorSinclair, Andrewspa
dc.creatorKoopman, Peterspa
dc.creatorLaissue, Paul
dc.date.accessioned2020-05-26T00:01:39Z
dc.date.available2020-05-26T00:01:39Z
dc.date.created2012spa
dc.description.abstractAnomalies in gonadal development in a mouse knockout model of Cited2 have been recently described. In Cited2 -/- female gonads, an ectopic cell migration was observed and the female program of sex determination was transiently delayed. We hypothesize that, in humans, this temporary inhibition of genes should be sufficient to provoke a developmental impairment of the female gonads, conducive to premature ovarian failure (POF). To establish whether CITED2 mutations are a common cause of the disease, we performed a mutational analysis of this gene in a panel of patients with POF and in a group of control women with normal fertility. We amplified and directly sequenced the complete open reading frame of CITED2 in 139 patients with POF and 290 controls. This study revealed 5 synonymous and 3 nonsynonymous variants. Among these, 7 are novel. The nonsynonymous variant c.604C and gt;A (p.Pro202Thr) was found uniquely in 1 woman from the POF group. In silico analysis of this mutation indicated a potential deleterious effect. We conclude that mutations in CITED2 may be involved in POF pathogenesis. © 2012 Mosby, Inc. All rights reserved.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1016/j.trsl.2012.05.006
dc.identifier.issn19315244
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/23391
dc.language.isoengspa
dc.publisherMosby Inc.spa
dc.relation.citationEndPage388
dc.relation.citationIssueNo. 5
dc.relation.citationStartPage384
dc.relation.citationTitleTranslational Research
dc.relation.citationVolumeVol. 160
dc.relation.ispartofTranslational Research, ISSN:19315244, Vol.160, No.5 (2012); pp. 384-388spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84867513436&doi=10.1016%2fj.trsl.2012.05.006&partnerID=40&md5=d9e0d6a553ba6a0a8b2e56568dca124espa
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.keywordAdultspa
dc.subject.keywordArticlespa
dc.subject.keywordCbp/p300 interacting transactivator with ed rich tail 2 genespa
dc.subject.keywordComputer modelspa
dc.subject.keywordControlled studyspa
dc.subject.keywordDisease associationspa
dc.subject.keywordFemalespa
dc.subject.keywordFemale fertilityspa
dc.subject.keywordGenespa
dc.subject.keywordGene amplificationspa
dc.subject.keywordGene mutationspa
dc.subject.keywordGene sequencespa
dc.subject.keywordGenetic analysisspa
dc.subject.keywordGenetic associationspa
dc.subject.keywordGenetic variabilityspa
dc.subject.keywordHumanspa
dc.subject.keywordHuman tissuespa
dc.subject.keywordIdiopathic diseasespa
dc.subject.keywordMajor clinical studyspa
dc.subject.keywordMutational analysisspa
dc.subject.keywordOpen reading framespa
dc.subject.keywordPremature ovarian failurespa
dc.subject.keywordPriority journalspa
dc.titleCITED2 mutations potentially cause idiopathic premature ovarian failurespa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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