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Molecular analysis of exons 8, 9 and 10 of the fibroblast growth factor receptor 2 (FGFR2) gene in two families with index cases of apert syndrome

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dc.creatorTorres L.spa
dc.creatorHernández G.spa
dc.creatorBarrera A.spa
dc.creatorOspina S.spa
dc.creatorPrada R.spa
dc.date.accessioned2020-05-26T00:04:56Z
dc.date.available2020-05-26T00:04:56Z
dc.date.created2015spa
dc.description.abstractIntroduction: Apert syndrome (AS) is a craniosynostosis condition caused by mutations in the Fibroblast Growth Factor Receptor 2 (FGFR2) gene. Clinical features include cutaneous and osseous symmetric syndactily in hands and feet, with variable presentations in bones, brain, skin and other internal organs. Methods: Members of two families with an index case of Apert Syndrome were assessed to describe relevant clinical features and molecular analysis (sequencing and amplification) of exons 8, 9 and 10 of FGFR2 gen. Results: Family 1 consists of the mother, the index case and half -brother who has a cleft lip and palate. In this family we found a single FGFR2 mutation, S252W, in the sequence of exon 8. Although mutations were not found in the study of the patient affected with cleft lip and palate, it is known that these diseases share signaling pathways, allowing suspected alterations in shared genes. In the patient of family 2, we found a sequence variant T78.501A located near the splicing site, which could interfere in this process, and consequently with the protein function. © 2015. Universidad del Valle.eng
dc.format.mimetypeapplication/pdf
dc.identifier.issn16579534
dc.identifier.issn01208322
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/23734
dc.language.isoengspa
dc.publisherFacultad de Salud de la Universidad del Vallespa
dc.relation.citationEndPage158
dc.relation.citationIssueNo. 3
dc.relation.citationStartPage155
dc.relation.citationTitleColombia Medica
dc.relation.citationVolumeVol. 46
dc.relation.ispartofColombia Medica, ISSN:16579534, 01208322, Vol.46, No.3 (2015); pp. 155-158spa
dc.relation.urihttps://app.dimensions.ai/details/publication/pub.1079183899spa
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.keywordFibroblast growth factor receptor 2spa
dc.subject.keywordfibroblast growth factoreng
dc.subject.keywordAcrocephalosyndactylyspa
dc.subject.keywordArticlespa
dc.subject.keywordBrachycephalyspa
dc.subject.keywordCase reportspa
dc.subject.keywordComputer assisted tomographyspa
dc.subject.keywordExonspa
dc.subject.keywordFgfr2 genespa
dc.subject.keywordGenespa
dc.subject.keywordGene mutationspa
dc.subject.keywordHumanspa
dc.subject.keywordHypertelorismspa
dc.subject.keywordMalespa
dc.subject.keywordMidface hypoplasiaspa
dc.subject.keywordMolecular diagnosisspa
dc.subject.keywordPolymerase chain reactionspa
dc.subject.keywordSkin aplasiaspa
dc.subject.keywordSyndactylyspa
dc.subject.keywordAcrocephalosyndactylyspa
dc.subject.keywordDna sequencespa
dc.subject.keywordExonspa
dc.subject.keywordFemalespa
dc.subject.keywordGene amplificationspa
dc.subject.keywordGeneticsspa
dc.subject.keywordMutationspa
dc.subject.keywordPathophysiologyspa
dc.subject.keywordAcrocephalosyndactyliaspa
dc.subject.keywordExonsspa
dc.subject.keywordFemalespa
dc.subject.keywordGene amplificationspa
dc.subject.keywordHumansspa
dc.subject.keywordMalespa
dc.subject.keywordMutationspa
dc.subject.keywordReceptoreng
dc.subject.keywordSequence analysiseng
dc.subject.keywordApert syndromespa
dc.subject.keywordCleft palatespa
dc.subject.keywordFgfr2 genespa
dc.subject.keywordIntronspa
dc.subject.keywordMutationspa
dc.titleMolecular analysis of exons 8, 9 and 10 of the fibroblast growth factor receptor 2 (FGFR2) gene in two families with index cases of apert syndromespa
dc.title.TranslatedTitleAnálisis molecular de los exones 8, 9 y 10 del gen del factor de crecimiento de fibroblastos (FGFR2) en dos familias con casos índice de síndrome de apertspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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