Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis.
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.
Rives
Susana
S
Department of Pediatric Hematology and Oncology, Hospital Sant Joan de Déu, Barcelona, Spain.
Pahl
Heike L
HL
Florensa
Lourdes
L
Bellosillo
Beatriz
B
Neusuess
Andrea
A
Estella
Jesus
J
Debatin
Klaus-Michael
KM
Kohne
Elisabeth
E
Schwarz
Klaus
K
Cario
Holger
H
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
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