Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2022 Sep 20;13(10):1686.
doi: 10.3390/genes13101686.

Identification of Two Novel EPOR Gene Variants in Primary Familial Polycythemia: Case Report and Literature Review

Laura Lo Riso  1 , Gardenia Vargas-Parra  2   3 , Gemma Navarro  2 , Leonor Arenillas  3   4 , Lierni Fernández-Ibarrondo  3 , Beatriz Robredo  5 , Carmen Ballester  1 , Bernardo López  1 , Albert Perez-Montaña  1 , Antonia Sampol  1 , Lourdes Florensa  3   4 , Carles Besses  3   6 , María Antonia Duran  1 , Beatriz Bellosillo  2   3
Affiliations
Review

Identification of Two Novel EPOR Gene Variants in Primary Familial Polycythemia: Case Report and Literature Review

Laura Lo Riso et al. Genes (Basel). .

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.

Keywords: EPOR; erythrocytosis; polycythemia; variants.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
EPOR pathogenic variants identified in this study.
See this image and copyright information in PMC

References

    1. Mcmullin M.F. Genetic background of congenital erythrocytosis. Genes. 2021;12:1151. doi: 10.3390/genes12081151. - DOI - PMC - PubMed
    1. Barbui T., Thiele J., Ferrari A., Vannucchi A.M., Tefferi A. The new WHO classification for essential thrombocythemia calls for revision of available evidences. Blood Cancer J. 2020;10:22. doi: 10.1038/s41408-020-0290-9. - DOI - PMC - PubMed
    1. Kralovics R., Prchal J.T. Genetic heterogeneity of primary familial and congenital polycythemia. Am. J. Hematol. 2001;68:115–121. doi: 10.1002/ajh.1162. - DOI - PubMed
    1. Bento C., McMullin M.F., Gardie B., Percy M., Cario H., Kučerová J., Girodon F., Rossi C., Aström M., Diaz-Aguado A., et al. Congenital Erythrocytosis and Hereditary Thrombocytosis. COST (European Cooperation in Science and Technology); Brussels, Belgium: 2015.
    1. Bento C., Percy M.J., Gardie B., Maia T.M., van Wijk R., Perrotta S., Della Ragione F., Almeida H., Rossi C., Girodon F., et al. Genetic basis of congenital erythrocytosis: Mutation update and online databases. Hum. Mutat. 2014;35:15–26. doi: 10.1002/humu.22448. - DOI - PubMed

Substances

Supplementary concepts