A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis.

Authors: Arcasoy, MO  Karayal, AF  Segal, HM  Sinning, JG  Forget, BG 
Citation: Arcasoy MO, etal., Blood. 2002 Apr 15;99(8):3066-9.
Pubmed: (View Article at PubMed) PMID:11929803

Primary familial erythrocytosis (familial polycythemia) is a rare myeloproliferative disorder with an autosomal dominant mode of inheritance. We studied a new kindred with autosomal dominantly inherited familial erythrocytosis. The molecular basis for the observed phenotype of isolated erythrocytosis is heterozygosity for a novel nonsense mutation affecting codon 399 in exon 8 of the erythropoietin receptor (EPOR) gene, encoding an EpoR peptide that is truncated by 110 amino acids at its C-terminus. The new EPOR gene mutation 5881G>T was found to segregate with isolated erythrocytosis in the affected family and this mutation represents the most extensive EpoR truncation reported to date, associated with familial erythrocytosis. Erythroid progenitors from an affected individual displayed Epo hypersensitivity in in vitro methylcellulose cultures, as indicated by more numerous erythroid burst-forming unit-derived colonies in low Epo concentrations compared to normal controls. Expression of mutant EpoR in interleukin 3-dependent hematopoietic cells was associated with Epo hyperresponsiveness compared to cells expressing wild-type EpoR.


Disease Annotations
Phenotype Annotations
Objects Annotated

Additional Information

CRRD Object Information
CRRD ID: 11041631
Created: 2016-03-25
Species: All species
Last Modified: 2016-03-25
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.