Erythrocytosis due to a mutation in the erythropoietin receptor gene.
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.
Percy
M J
MJ
Department of Haematology, The Queen's University of Belfast, Northern Ireland.
McMullin
M F
MF
Roques
A W
AW
Westwood
N B
NB
Acharya
J
J
Hughes
A E
AE
Lappin
T R
TR
Pearson
T C
TC
D000293:Adolescent; D005091:Exons / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D011086:Polycythemia / Q000235:genetics*; D017467:Receptors, Erythropoietin / Q000235:genetics*
D017467:Receptors, Erythropoietin