Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietin.
In one out of six young individuals with polycythemia and high erythropoietin levels we found a heterozygous VHL gene mutation (430G->A;Gly144Arg). The man's unaffected mother and sister carry the same mutation. No other VHL genomic or expression alterations were found. In one other patient different genetic conditions were found.
Randi
Maria Luigia
ML
Murgia
Alessandra
A
Putti
Maria Caterina
MC
Martella
Maddalena
M
Casarin
Alberto
A
Opocher
Giuseppe
G
Fabris
Fabrizio
F
D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D002675:Child, Preschool; D004921:Erythropoietin / Q000097:blood; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007558:Italy; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D011086:Polycythemia / Q000097:blood / Q000235:genetics*; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*
D004921:Erythropoietin; D051794:Von Hippel-Lindau Tumor Suppressor Protein