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dc.creatorOrtega-Recalde, Oscar-Javier 
dc.creatorIne´s Vergara, Jéssica 
dc.creatorFonseca-Mendoza, Dora Janeth 
dc.creatorRíos, Xiomara 
dc.creatorMosquera, Hernando 
dc.creatorBermúdez, Olga 
dc.creatorMedina, Claudia Liliana 
dc.creatorVargas, Clara 
dc.creatorPallares, Argemiro Enrique 
dc.creatorRestrepo, Carlos Martín 
dc.creatorLaissue, Paul 
dc.date.accessioned2014-08-11T14:29:49Z
dc.date.available2014-08-11T14:29:49Z
dc.date.created2013-06
dc.date.issued2013 
dc.identifier.issnISSN:1932-6203
dc.identifier.urihttp://repository.urosario.edu.co/handle/10336/8764
dc.description.abstractXeroderma pigmentosum (XP) is a rare autosomal recessive disorder haracterized by extreme sensitivity to actinic pigmentation changes in the skin and increased incidence of skin cancer. In some cases, patients are affected by neurological alterations. XP is caused by mutations in 8 distinct genes (XPA through XPG and XPV). The XP-V (variant) subtype of the disease results from mutations in a gene (XPV, also named POLH) which encodes for Polg, a member of the Y-DNA polymerase family. Although the presence and severity of skin and neurological dysfunctions differ between XP subtypes, there are overlapping clinical features among subtypes such that the sub-type cannot be deduced from the clinical features. In this study, in order to overcome this drawback, we undertook whole-exome sequencing in two XP sibs and their father. We identified a novel homozygous nonsense mutation (c.897T.G, p.Y299X) in POLH which causes the disease. Our results demonstrate that next generation sequencing is a powerful approach to rapid determination of XP genetic etiology.
dc.format.mediumRecurso electrónico
dc.format.mimetypeapplication/pdf
dc.language.isoeng
dc.relation.ispartofPLOS ONE, ISSN 1932-6203, V. 8 N. 6 Jun, 2013
dc.relation.urihttp://repository.urosario.edu.co/handle/10336/5133/submit/381f483b7c4d78374d43521f867e4c3588281c67.continue
dc.sourcereponame:Repositorio Institucional EdocUR
dc.sourceinstname:Universidad del Rosario
dc.subject.ddcEnfermedades 
dc.titleWhole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology
dc.typearticle
dc.audienceComunidad Rosarista
dc.publisherUniversidad del Rosario
dc.subject.keywordUnidad de Gene´tica, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogota´, Colombia
dc.subject.keywordDepartamento de Dermatologı´a, Universidad Auto´noma de Bucaramanga, Bucaramanga, Colombia,
dc.subject.keywordUnidad de Dermatologıa, Clınica Carlos Ardila Lulle, Bucaramanga, Colombia,
dc.subject.keywordDepartamento de Biologı´a Molecular, Gene´tica Molecular de Colombia, Bogota´, Colombia
dc.subject.keywordUniversidad Industrial de Santander, Bucaramanga, Colombia
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.subject.decsXeroderma pigmentoso (XP)
dc.subject.decsEnfermedades de la piel
dc.subject.decsDermatología
dc.subject.decsInmunología
dc.type.spaArtículo
dc.rights.accesoAbierto (Texto completo)
dc.type.hasVersioninfo:eu-repo/semantics/acceptedVersion
dc.format.tipoDocumento
dc.rights.licenciaEL AUTOR, manifiesta que la obra objeto de la presente autorización es original y la realizó sin violar o usurpar derechos de autor de terceros, por lo tanto la obra es de exclusiva autoría y tiene la titularidad sobre la misma.
dc.creator.googleOrtega-Recalde, Oscar-Javier
dc.creator.googleIne´s Vergara, Jéssica
dc.creator.googleFonseca-Mendoza, Dora Janeth
dc.creator.googleRíos, Xiomara
dc.creator.googleMosquera, Hernando
dc.creator.googleBermúdez, Olga María
dc.creator.googleMedina, Claudia Liliana
dc.creator.googleVargas, Clara Inés
dc.creator.googlePallares, Argemiro Enrique
dc.creator.googleRestrepo, Carlos M.
dc.creator.googleLaissue, Paul


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