title: Erythrocytosis due to a mutation in the erythropoietin receptor gene.
abstract: Familial erythrocytosis, associated with high haemoglobin levels and low serum erythropoietin (Epo), has been shown to co-segregate with a sequence repeat polymorphism at the 5' region of the erythropoietin receptor (EpoR) in a large Finnish family. We have investigated the cause of erythrocytosis in an English boy. Sequencing of the cytoplasmic region of the EpoR detected a de novo transition mutation of G to A at nucleotide 6002. This mutation resulted in the formation of a stop codon at amino acid 439 with the loss of 70 amino acids from the carboxy terminus. The mutation (G6002A) has arisen independently in a Finnish family and de novo in this English boy. Patients with unexplained erythrocytosis and low serum Epo levels should be investigated for EpoR mutations.
authors.affiliation: Department of Haematology, The Queen's University of Belfast, Northern Ireland.
authors.forename: M J
authors.initials: MJ
authors.lastname: Percy
authors.forename: M F
authors.initials: MF
authors.lastname: McMullin
authors.forename: A W
authors.initials: AW
authors.lastname: Roques
authors.forename: N B
authors.initials: NB
authors.lastname: Westwood
authors.forename: J
authors.initials: J
authors.lastname: Acharya
authors.forename: A E
authors.initials: AE
authors.lastname: Hughes
authors.forename: T R
authors.initials: TR
authors.lastname: Lappin
authors.forename: T C
authors.initials: TC
authors.lastname: Pearson
mesh_terms: D000293:Adolescent; D005091:Exons / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D011086:Polycythemia / Q000235:genetics*; D017467:Receptors, Erythropoietin / Q000235:genetics*
chemical_list: D017467:Receptors, Erythropoietin