doi: 10.3324/haematol.10787.
Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis
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- PMID: 17488692
- DOI: 10.3324/haematol.10787
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Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis
Haematologica.
2007 May.
Free article
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.
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