title: A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene.
abstract: 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).
authors.affiliation: INSERM, U841, Créteil, France.
authors.forename: Maha
authors.initials: M
authors.lastname: Al-Sheikh
authors.forename: Elodie
authors.initials: E
authors.lastname: Mazurier
authors.forename: Betty
authors.initials: B
authors.lastname: Gardie
authors.forename: Nicole
authors.initials: N
authors.lastname: Casadevall
authors.forename: Frédéric
authors.initials: F
authors.lastname: Galactéros
authors.forename: Michel
authors.initials: M
authors.lastname: Goossens
authors.forename: Henri
authors.initials: H
authors.lastname: Wajcman
authors.forename: Claude
authors.initials: C
authors.lastname: Préhu
authors.forename: Valérie
authors.initials: V
authors.lastname: Ugo
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D005786:Gene Expression Regulation; D006801:Humans; D064799:Hypoxia-Inducible Factor-Proline Dioxygenases; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011086:Polycythemia / Q000175:diagnosis* / Q000235:genetics*; D011393:Procollagen-Proline Dioxygenase / Q000235:genetics; D017467:Receptors, Erythropoietin / Q000235:genetics* / Q000378:metabolism; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000378:metabolism
chemical_list: D017467:Receptors, Erythropoietin; C490190:EGLN1 protein, human; D011393:Procollagen-Proline Dioxygenase; D064799:Hypoxia-Inducible Factor-Proline Dioxygenases; D051794:Von Hippel-Lindau Tumor Suppressor Protein