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TAF1 Variants are associated with dysmorphic features, intellectual disability, and neurological manifestations

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dc.creatorO’Rawe, Jason A.
dc.creatorWu, Yiyang
dc.creatorDörfel, Max J.
dc.creatorRope, Alan F.
dc.creatorBillie Au, P.Y.
dc.creatorParboosingh, Jillian S.
dc.creatorMoon, Sungjin
dc.creatorKousi, Maria
dc.creatorKosma, Konstantina
dc.creatorSmith, Christopher S.
dc.creatorTzeti, Maria
dc.creatorSchuette, Jane L.
dc.creatorHufnagel, Robert B.
dc.creatorPrada, Carlos E.
dc.creatorMartinez, Francisco
dc.creatorOrellana, Carmen
dc.creatorCrain, Jonathan
dc.creatorCaro-Llopis, Alfonso
dc.creatorOltra, Silvestre
dc.creatorMonfort, Sandra
dc.creatorJiménez-Barrón, Laura T.
dc.creatorSwensen, Jeffrey
dc.creatorEllingwood, Sara
dc.creatorSmith, Rosemarie
dc.creatorFang, Han
dc.creatorOspina, Sandra
dc.creatorStegmann, Sander
dc.creatorDen Hollander, Nicolette
dc.creatorMittelman, David
dc.creatorHighnam, Gareth
dc.creatorRobison, Reid
dc.creatorYang, Edward
dc.creatorFaivre, Laurence
dc.creatorRoubertie, Agathe
dc.creatorRivière, Jean-Baptiste
dc.creatorMonaghan, Kristin G.
dc.creatorWang, Kai
dc.creatorDavis, Erica E.
dc.creatorKatsanis, Nicholas
dc.creatorKalscheuer, Vera M.
dc.creatorWang, Edith H.
dc.creatorMetcalfe, Kay
dc.creatorKleefstra, Tjitske
dc.creatorInnes, A. Micheil
dc.creatorKitsiou-Tzeli, Sophia
dc.creatorRosello, Monica
dc.creatorKeegan, Catherine E.
dc.creatorLyon, Gholson J.
dc.creator.googleO’Rawe, Jason A.
dc.creator.googleWu, Yiyang
dc.creator.googleDörfel, Max J.
dc.creator.googleRope, Alan F.
dc.creator.googleBillie Au, P.Y.
dc.creator.googleParboosingh, Jillian S.
dc.creator.googleMoon, Sungjin
dc.creator.googleKousi, Maria
dc.creator.googleKosma, Konstantina
dc.creator.googleSmith, Christopher S.
dc.creator.googleTzeti, Maria
dc.creator.googleSchuette, Jane L.
dc.creator.googleHufnagel, Robert B.
dc.creator.googlePrada, Carlos E.
dc.creator.googleMartinez, Francisco
dc.creator.googleOrellana, Carmen
dc.creator.googleCrain, Jonathan
dc.creator.googleCaro-Llopis, Alfonso
dc.creator.googleOltra, Silvestre
dc.creator.googleMonfort, Sandra
dc.creator.googleJiménez-Barrón, Laura T.
dc.creator.googleSwensen, Jeffrey
dc.creator.googleEllingwood, Sara
dc.creator.googleSmith, Rosemarie
dc.creator.googleFang, Han
dc.creator.googleOspina, Sandra
dc.creator.googleStegmann, Sander
dc.creator.googleDen Hollander, Nicolette
dc.creator.googleMittelman, David
dc.creator.googleHighnam, Gareth
dc.creator.googleRobison, Reid
dc.creator.googleYang, Edward
dc.creator.googleFaivre, Laurence
dc.creator.googleRoubertie, Agathe
dc.creator.googleRivière, Jean-Baptiste
dc.creator.googleMonaghan, Kristin G.
dc.creator.googleWang, Kai
dc.creator.googleDavis, Erica E.
dc.creator.googleKatsanis, Nicholas
dc.creator.googleKalscheuer, Vera M.
dc.creator.googleWang, Edith H.
dc.creator.googleMetcalfe, Kay
dc.creator.googleKleefstra, Tjitske
dc.creator.googleInnes, A. Micheil
dc.creator.googleKitsiou-Tzeli, Sophia
dc.creator.googleRosello, Monica
dc.creator.googleKeegan, Catherine E.
dc.creator.googleLyon, Gholson J.
dc.date.accessioned2019-02-05T20:34:39Z
dc.date.available2019-02-05T20:34:39Z
dc.date.created2015
dc.date.issued2015
dc.description.abstractWe describe an X-linked genetic syndrome associated with mutations in TAF1 and manifesting with global developmental delay, intellectual disability (ID), characteristic facial dysmorphology, generalized hypotonia, and variable neurologic features, all in male individuals. Simultaneous studies using diverse strategies led to the identification of nine families with overlapping clinical presentations and affected by de novo or maternally inherited single-nucleotide changes. Two additional families harboring large duplications involving TAF1 were also found to share phenotypic overlap with the probands harboring single-nucleotide changes, but they also demonstrated a severe neurodegeneration phenotype. Functional analysis with RNA-seq for one of the families suggested that the phenotype is associated with downregulation of a set of genes notably enriched with genes regulated by E-box proteins. In addition, knockdown and mutant studies of this gene in zebrafish have shown a quantifiable, albeit small, effect on a neuronal phenotype. Our results suggest that mutations in TAF1 play a critical role in the development of this X-linked ID syndrome. © 2015 The Authors.eng
dc.format.mimetypeapplication/pdf
dc.identifier.issnISSN 0002-9297
dc.identifier.urihttp://repository.urosario.edu.co/handle/10336/19015
dc.language.isoengspa
dc.relation.citationEndPage932
dc.relation.citationIssueNo. 6
dc.relation.citationStartPage922
dc.relation.citationTitleAmerican Journal of Human Genetics
dc.relation.citationVolumeVol. 97
dc.relation.ispartofAmerican Journal of Human Genetics, ISSN: 0002-9297, Vol. 97/No. 6 (2015) pp. 922-932spa
dc.relation.urihttps://ac.els-cdn.com/S0002929715004504/1-s2.0-S0002929715004504-main.pdf?_tid=5b81e5b3-8175-4e61-9046-ef9e81f33065&acdnat=1540041607_a8daa5e1a307e37d73448c9def7f796fspa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.rights.cchttps://creativecommons.org/licenses/by-nc-nd/4.0/spa
dc.source.bibliographicCitationPapai, G., Weil, P.A., Schultz, P., New insights into the function of transcription factor TFIID from recent structural studies (2011) Curr. Opin. Genet. Dev., 21, pp. 219-224spa
dc.source.instnameinstname:Universidad del Rosario
dc.source.reponamereponame:Repositorio Institucional EdocUR
dc.subjectAbnormal Gaitspa
dc.subjectDevelopmental Delayspa
dc.subjectDystoniaspa
dc.subjectFacial Dysmorphologyspa
dc.subjectIntellectual Disabilityspa
dc.subjectIntergluteal Creasespa
dc.subjectNeurologic Featuresspa
dc.subjectTaf1spa
dc.subjectTranscriptionspa
dc.subject.ddcGinecología & otras especialidades médicasspa
dc.subject.decsE Box Proteinspa
dc.subject.decsProteinspa
dc.subject.decsTata Binding Protein Associated Factorspa
dc.subject.decsTranscription Factorspa
dc.subject.decsUnclassified Drugspa
dc.subject.decsHistone Acetyltransferasespa
dc.subject.decsTata Binding Protein Associated Factorspa
dc.subject.decsTata-Binding Protein Associated Factor 25 Kdaspa
dc.subject.decsTranscription Factor Iidspa
dc.subject.decsAdolescentspa
dc.subject.decsArticlespa
dc.subject.decsChildspa
dc.subject.decsClinical Articlespa
dc.subject.decsClinical Assessmentspa
dc.subject.decsClinical Evaluationspa
dc.subject.decsClinical Featurespa
dc.subject.decsDevelopmental Disorderspa
dc.subject.decsDown Regulationspa
dc.subject.decsFace Dysmorphiaspa
dc.subject.decsFamily Assessmentspa
dc.subject.decsGene Duplicationspa
dc.subject.decsGene Mutationspa
dc.subject.decsGenetic Associationspa
dc.subject.decsGenetic Disorderspa
dc.subject.decsGenetic Screeningspa
dc.subject.decsHumanspa
dc.subject.decsIntellectual Impairmentspa
dc.subject.decsMalespa
dc.subject.decsMuscle Hypotoniaspa
dc.subject.decsNerve Degenerationspa
dc.subject.decsNeurologic Diseasespa
dc.subject.decsPhenotypic Variationspa
dc.subject.decsPreschool Childspa
dc.subject.decsPriority Journalspa
dc.subject.decsRecessive Inheritancespa
dc.subject.decsRna Sequencespa
dc.subject.decsSchool Childspa
dc.subject.decsSingle Nucleotide Polymorphismspa
dc.subject.decsZebra Fishspa
dc.subject.decsAnimalspa
dc.subject.decsDegenerative Diseasespa
dc.subject.decsDisease Modelspa
dc.subject.decsE Box Elementspa
dc.subject.decsFaciesspa
dc.subject.decsFamilyspa
dc.subject.decsGene Expression Regulationspa
dc.subject.decsGeneticsspa
dc.subject.decsInfantspa
dc.subject.decsInheritancespa
dc.subject.decsIntellectual Impairmentspa
dc.subject.decsMetabolismspa
dc.subject.decsMutationspa
dc.subject.decsPathologyspa
dc.subject.decsPedigreespa
dc.subject.decsPhenotypespa
dc.subject.decsSignal Transductionspa
dc.subject.decsYoung Adultspa
dc.subject.decsAdolescentspa
dc.subject.decsAnimalsspa
dc.subject.decsChildspa
dc.subject.decsChild, Preschoolspa
dc.subject.decsDevelopmental Disabilitiesspa
dc.subject.decsDisease Models, Animalspa
dc.subject.decsE-Box Elementsspa
dc.subject.decsFaciesspa
dc.subject.decsFamilyspa
dc.subject.decsGene Expression Regulationspa
dc.subject.decsHistone Acetyltransferasesspa
dc.subject.decsHumansspa
dc.subject.decsInfantspa
dc.subject.decsInheritance Patternsspa
dc.subject.decsIntellectual Disabilityspa
dc.subject.decsMalespa
dc.subject.decsMutationspa
dc.subject.decsNeurodegenerative Diseasesspa
dc.subject.decsPedigreespa
dc.subject.decsPhenotypespa
dc.subject.decsSignal Transductionspa
dc.subject.decsTata-Binding Protein Associated Factorsspa
dc.subject.decsTranscription Factor Tfiidspa
dc.subject.decsYoung Adultspa
dc.subject.decsZebrafishspa
dc.subject.lembEnfermedades genéticas en los niñosspa
dc.subject.lembAnormalidades de los cromosomas sexuales en niñosspa
dc.titleTAF1 Variants are associated with dysmorphic features, intellectual disability, and neurological manifestationsspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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