Identification of two novel EPOR gene variants in primary familial polycythemia: Case report and literature review

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• dc.contributor.author Lo Riso, Laura
• dc.contributor.author Vargas-Parra, Gardenia
• dc.contributor.author Navarro, Gemma
• dc.contributor.author Arenillas Rocha, Leonor
• dc.contributor.author Fernández-Ibarrondo, Lierni
• dc.contributor.author Robredo, Beatriz
• dc.contributor.author Ballester, Carmen
• dc.contributor.author López, Bernardo
• dc.contributor.author Perez-Montaña, Albert
• dc.contributor.author Sampol, Antonia
• dc.contributor.author Florensa Brichs, Lourdes
• dc.contributor.author Besses Raebel, Carles
• dc.contributor.author Duran, María Antonia
• dc.contributor.author Bellosillo Paricio, Beatriz
• dc.date.accessioned 2023-04-05T06:16:03Z
• dc.date.available 2023-04-05T06:16:03Z
• dc.date.issued 2022
• dc.description.abstract Primary familial and congenital polycythemia is a rare disease characterized by an increase in red cell mass that may be due to pathogenic variants in the EPO receptor (EPOR) gene. To date, 33 genetic variants have been reported to be associated. We analyzed the presence of EPOR variants in two patients with polycythemia in whom JAK2 pathogenic variants had been previously discarded. Molecular analysis of the EPOR gene was performed by Sanger sequencing of the coding regions and exon/intron boundaries of exon 8. We performed in vitro culture of erythroid progenitor cells. Segregation studies were done whenever possible. The two patients studied showed hypersensitivity to EPO in in vitro cultures. Analysis of the EPOR gene unveiled two novel pathogenic variants. Genetic testing of asymptomatic relatives could guarantee surveillance and proper management.
• dc.format.mimetype application/pdf
• dc.identifier.citation Lo Riso L, Vargas-Parra G, Navarro G, Arenillas L, Fernández-Ibarrondo L, Robredo B, Ballester C, López B, Perez-Montaña A, Sampol A, Florensa L, Besses C, Duran MA, Bellosillo B. Identification of two novel EPOR gene variants in primary familial polycythemia: Case report and literature review. Genes (Basel). 2022 Sep 20;13(10):1686. DOI: 10.3390/genes13101686
• dc.identifier.doi http://dx.doi.org/10.3390/genes13101686
• dc.identifier.issn 2073-4425
• dc.identifier.uri http://hdl.handle.net/10230/56413
• dc.language.iso eng
• dc.publisher MDPI
• dc.relation.ispartof Genes (Basel). 2022 Sep 20;13(10):1686
• dc.rights © 2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by/4.0/
• dc.subject.keyword EPOR
• dc.subject.keyword Erythrocytosis
• dc.subject.keyword Polycythemia
• dc.subject.keyword Variants
• dc.title Identification of two novel EPOR gene variants in primary familial polycythemia: Case report and literature review
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion