title: Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis.
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.
authors.affiliation: Department of Pediatric Hematology and Oncology, Hospital Sant Joan de Déu, Barcelona, Spain.
authors.forename: Susana
authors.initials: S
authors.lastname: Rives
authors.forename: Heike L
authors.initials: HL
authors.lastname: Pahl
authors.forename: Lourdes
authors.initials: L
authors.lastname: Florensa
authors.forename: Beatriz
authors.initials: B
authors.lastname: Bellosillo
authors.forename: Andrea
authors.initials: A
authors.lastname: Neusuess
authors.forename: Jesus
authors.initials: J
authors.lastname: Estella
authors.forename: Klaus-Michael
authors.initials: KM
authors.lastname: Debatin
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Kohne
authors.forename: Klaus
authors.initials: K
authors.lastname: Schwarz
authors.forename: Holger
authors.initials: H
authors.lastname: Cario
mesh_terms: D000328:Adult; D002675:Child, Preschool; D018389:Codon, Nonsense; D003114:Colony-Forming Units Assay; D004252:DNA Mutational Analysis; D015672:Erythroid Precursor Cells / Q000473:pathology; D004921:Erythropoietin / Q000097:blood*; D005091:Exons / Q000235:genetics; D005260:Female; D058851:GPI-Linked Proteins; D006801:Humans; D007519:Isoantigens / Q000235:genetics; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D011086:Polycythemia / Q000151:congenital / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000097:blood; D011956:Receptors, Cell Surface / Q000235:genetics; D017467:Receptors, Erythropoietin / Q000235:genetics*; D019851:Thrombophilia / Q000209:etiology
chemical_list: C407242:CD177 protein, human; D018389:Codon, Nonsense; D058851:GPI-Linked Proteins; D007519:Isoantigens; D008562:Membrane Glycoproteins; D012333:RNA, Messenger; D011956:Receptors, Cell Surface; D017467:Receptors, Erythropoietin; D004921:Erythropoietin; C507924:JAK2 protein, human; D053614:Janus Kinase 2