Haematologica
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Published online 19 May 2008
Haematologica, Vol 93, Issue 7, 1072-1075 doi:10.3324/haematol.12260
Copyright © 2008 by Ferrata Storti Foundation
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Erythrocytosis

A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene

Maha Al-Sheikh1,2, Elodie Mazurier1, Betty Gardie5, Nicole Casadevall4, Frédéric Galactéros1,3, Michel Goossens1,2, Henri Wajcman1,2, Claude Préhu1,2, Valérie Ugo6

1 INSERM, U841, Créteil
2 Service de Biochimie et Génétique, AP-HP, Groupe Henri Mondor, Albert Chenevier, Créteil
3 Unité de Génétique du Globules Rouges, AP-HP, Groupe Henri Mondor, Albert Chenevier
4 Service Hématologie Biologique, AP-HP, Hôpital Hôtel Dieu, Paris
5 Institut Gustave Roussy, Villejuif
6 Laboratoire d’hématologie, Centre Hospitalier Universitaire de Brest, Université de Bretagne Occidentale, Brest, France

Correspondence: Valérie Ugo, Laboratoire d’Hématologie, Hôpital Morvan, Centre Hospitalier Universitaire de Brest, 5 Avenue Foch, 29200 Brest, France. E-mail:valerie.ugo{at}chu-brest.fr

Thirty-six unrelated cases with erythrocytosis of unknown origin were investigated. Exons 5–8 of the erythropoietin receptor gene (EPOR), the von Hippel-Lindau gene, and the prolyl hydroxylase domain protein 2 gene (PHD2) were screened by direct DNA sequencing. The Janus kinase 2 mutation, JAK2 (Val617Phe), was screened by allele specific PCR. In this study, three new mutations of EPOR causing deletions in exon 8 were found: the first led directly to a stop codon [g.5957_5958delTT (p.Phe424X)], the second to a stop codon after one residue [g.5828_5829delCC (p.Pro381GlnfsX1)] and the third to a stop codon following a frameshift sequence of 23 residues [g.5971delC (p.Leu429TrpfsX23)]. One patient had a previously reported EPOR mutation [g.6146A>G (p.Asn487Ser)] and another, a silent one (g.5799G>A). All were heterozygotes. In addition, 2 patients were positive for JAK2 (Val617Phe), and 2 reported elsewhere, were mutated in the PHD2 gene [c.606delG (p.Met202IlefsX71).

Key words: polycythemia, erythrocytosis, erythropoietin receptor, von Hippel-Lindau, JAK2, prolyl hydroxylase domain protein 2.


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Familial erythrocytosis: molecular links to red blood cell control
Melanie J. Percy, Frank S. Lee
Haematologica 2008 93: 963-967. [Full Text] [PDF]





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