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

作者：Al Sheikh Maha; Mazurier Elodie; Gardie Betty; Casadevall Nicole; Galacteros Frederic; Goossens Michel; Wajcman Henri; Prehu Claude; Ugo Valerie^*

来源：Haematologica-The Hematology Journal, 2008, 93(7): 1072-1075.

DOI：10.3324/haematol.12260

• polycythemia
• erythrocytosis
• erythropoietin receptor
• von Hippel-Lindau
• JAK2
• prolyl hydroxylase domain protein 2

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 (Va1617Phe), 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 (Va1617Phe), and 2 reported elsewhere, were mutated in the PHD2 gene [c.606delG (p.Met202IlefsX71).

• 出版日期2008-7