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oai:repisalud.isciii.es:20.500.12105/234502024-11-29T06:39:12Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16967col_20.500.12105_16983

00925njm 22002777a 4500 dc Lo Riso, Laura author Vargas-Parra, Gardenia author Navarro, Gemma author Arenillas, Leonor author Fernández-Ibarrondo, Lierni author Robredo, Beatriz author Ballester Ruiz, Maria del Carmen author López Andrade, Bernardo author Pérez-Montaña, Albert author Sampol Mayol, Antonia author Florensa, Lourdes author Besses, Carles author Duran Pastor, Maria Antonia author Bellosillo, Beatriz author 2022-09-20 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. Lo Riso L, Vargas-Parra G, Navarro G, Arenillas L, Fernández-Ibarrondo L, Robredo B, et al. Identification of Two Novel EPOR Gene Variants in Primary Familial Polycythemia: Case Report and Literature Review. Genes (Basel). 2022 Sep 20;13(10):1686. 10.3390/genes13101686 2073-4425 Genes http://hdl.handle.net/20.500.13003/18201 36292571 L2019783510 2-s2.0-85140763108 https://hdl.handle.net/20.500.12105/23450 875313200001 Identification of Two Novel EPOR Gene Variants in Primary Familial Polycythemia: Case Report and Literature Review