Ítem
Acceso Abierto

Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology

Mostrar el registro sencillo de la publicación
dc.audienceComunidad Rosaristaspa
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 Fernández, Carlos Martín
dc.creatorLaissue, Paul
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
dc.date.accessioned2014-08-11T14:29:49Z
dc.date.available2014-08-11T14:29:49Z
dc.date.created2013
dc.date.issued2013-06-03
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.eng
dc.format.mediumRecurso electrónicospa
dc.format.mimetypeapplication/pdf
dc.format.tipoDocumentospa
dc.identifier.doihttps://doi.org/10.1371/journal.pone.0064692
dc.identifier.issn1932-6203
dc.identifier.urihttp://repository.urosario.edu.co/handle/10336/8764
dc.language.isoeng
dc.publisherUniversidad del Rosariospa
dc.relation.citationIssueNo. 6
dc.relation.citationTitlePLOS ONE
dc.relation.citationVolumeVol. 8
dc.relation.ispartofPLOS ONE, ISSN 1932-6203, V. 8 N. 6 Jun, 2013spa
dc.relation.urihttp://repository.urosario.edu.co/handle/10336/5133/submit/381f483b7c4d78374d43521f867e4c3588281c67.continue
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto completo)spa
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.spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subjectUnidad de Genéticaspa
dc.subjectUniversidad Autonoma de Bucaramangaspa
dc.subjectGenética Molecular de Colombiaspa
dc.subjectEscuela de Medicina y Ciencias de la Saludspa
dc.subjectDepartamento de Dermatologiaspa
dc.subjectUniversidad Industrial de Santanderspa
dc.subjectDepartamento de Biología Molecularspa
dc.subject.ddcEnfermedades
dc.subject.decsXeroderma pigmentoso (XP)spa
dc.subject.decsEnfermedades de la pielspa
dc.subject.decsDermatologíaspa
dc.subject.decsInmunologíaspa
dc.subject.keywordClınica Carlos Ardila Lulleeng
dc.subject.keywordDermatology Uniteng
dc.subject.keywordMolecular Genetics of Colombiaeng
dc.subject.keywordDermatology Departmenteng
dc.subject.keywordDepartment of Molecular Biologyeng
dc.titleWhole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiologyspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/acceptedVersion
dc.type.spaArtículospa
Archivos
Bloque original
Mostrando1 - 1 de 1
Miniatura
Nombre:
Whole-Exome Sequencin.pdf
Tamaño:
110.62 KB
Formato:
Adobe Portable Document Format
Descripción:
Descargar
Colecciones
Artículos