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Phenotypic and molecular characterization of the largest worldwide cluster of hereditary angioedema type 1

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dc.creatorArias-Flórez, Juan Sebastianspa
dc.creatorRamírez, Sandra Ximenaspa
dc.creatorBayona-Gomez, Bibianaspa
dc.creatorCastro-Castillo, Linaspa
dc.creatorCorrea-Martinez, Valeriaspa
dc.creatorSanchez-Gomez, Yasmínspa
dc.creatorUsaquén-Martínez, Williamspa
dc.creatorCasas-Vargas, Lilian Andreaspa
dc.creatorOlmos Olmos, Carlos Eduardospa
dc.creatorContreras Bravo, Noraspa
dc.creatorVelandia-Piedrahita, Camilo Andrésspa
dc.creatorMorel, Adrienspa
dc.creatorCabrera-Perez, Rodrigospa
dc.creatorSantiago-Tovar, Nataliaspa
dc.creatorGaviria-Sabogal, Cristian Camilospa
dc.creatorBernal, Ingrid Tatyanaspa
dc.creatorFonseca-Mendoza, Dora Janethspa
dc.creatorRestrepo Fernández, Carlos Martínspa
dc.date.accessioned2025-01-26T18:33:50Z
dc.date.available2025-01-26T18:33:50Z
dc.date.created2024-12-01spa
dc.date.issued2024-12-01spa
dc.descriptionHereditary angioedema type 1 (HAE1) is a rare, genetically heterogeneous, and autosomal dominant disease. It is a highly variable, insidious, and potentially life-threatening condition, characterized by sudden local, often asymmetric, and episodic subcutaneous and submucosal swelling, caused by pathogenic molecular variants in the SERPING1 gene, which codes for C1-Inhibitor protein. This study performed the phenotypic and molecular characterization of a HAE1 cluster that includes the largest number of affected worldwide. A geographically HAE1 cluster was found in the northeast Colombian department of Boyaca, which accounts for four unrelated families, with 79 suspected to be affected members. Next-Generation Sequencing (NGS) was performed in 2 out of 4 families (Family 1 and Family 4), identifying the variants c.1420C>T and c.1238T>G, respectively. The latter corresponds to a novel mutation. For Families 2 and 3, the c.1417G>A variant was confirmed by Sanger sequencing. This variant had been previously reported to the patient prior to the beginning of this study. Using deep-learning methods, the structure of the C1-Inhibitor protein, p. Gln474* and p.Met413Arg was predicted, and we propose the molecular mechanism related to the etiology of the disease. Using Sanger sequencing, family segregation analysis was performed on 44 individuals belonging to the families analyzed. The identification of this cluster and its molecular analysis will allow the timely identification of new cases and the establishment of adequate treatment strategies. Our results establish the importance of performing population genetic studies in a multi-cluster region for genetic diseases.spa
dc.format.mimetypeapplication/pdfspa
dc.identifier.doihttps://doi.org/10.1371/journal.pone.0311316spa
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/44829
dc.language.isoengspa
dc.publisherPLOS ONEspa
dc.relation.ispartofPLOS ONEspa
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internationalspa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccessspa
dc.rights.accesoAbierto (Texto Completo)spa
dc.rights.urihttp://creativecommons.org/licenses/by-nc-sa/4.0/spa
dc.sourcePLOS ONEspa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subjectEdemaspa
dc.subjectProtein structure predictionspa
dc.subjectProtein structurespa
dc.subjectReceptor antagonist therapyspa
dc.subjectDideoxy DNA sequencingspa
dc.subjectHuman geneticsspa
dc.subjectPolymerase chain reactionspa
dc.titlePhenotypic and molecular characterization of the largest worldwide cluster of hereditary angioedema type 1spa
dc.typearticlespa
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersionspa
dc.type.spaArtículospa
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