Abstract
Dominant mutations in the erythropoietin receptor (EPOR) gene account for only about 15% of cases of primary congenital erythrocytosis. To search for molecular alterations in patients with this disorder. Sixteen patients with Epo <10 mU/mL were studied, 3 were related. Analyses included EPOR and JAK2 gene sequencing, quantitative PRV-1 RT-PCR, and erythroid colony assays. A novel sporadic EPOR 1453G->A (Trp439Stop) mutation was detected. All familial cases, varied in phenotype, presented the EPOR 1414C->G (Tyr426Stop) mutation. JAK2 mutations are not involved in the pathogenesis of primary congenital erythrocytosis.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Child, Preschool
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Codon, Nonsense*
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Colony-Forming Units Assay
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DNA Mutational Analysis
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Erythroid Precursor Cells / pathology
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Erythropoietin / blood*
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Exons / genetics
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Female
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GPI-Linked Proteins
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Humans
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Isoantigens / genetics
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Janus Kinase 2 / genetics*
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Male
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Membrane Glycoproteins / genetics
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Middle Aged
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Pedigree
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Phenotype
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Polycythemia / congenital
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Polycythemia / genetics*
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Polymerase Chain Reaction
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RNA, Messenger / blood
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Receptors, Cell Surface / genetics
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Receptors, Erythropoietin / genetics*
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Thrombophilia / etiology
Substances
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CD177 protein, human
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Codon, Nonsense
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GPI-Linked Proteins
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Isoantigens
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Membrane Glycoproteins
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RNA, Messenger
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Receptors, Cell Surface
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Receptors, Erythropoietin
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Erythropoietin
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JAK2 protein, human
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Janus Kinase 2