Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietin

Haematologica

Volumn 90, Issue 5, 2005, Pages 689-691

  Randi, Maria Luigia ^a,b   Murgia, Alessandra ^a   Caterina Putti, Maria ^a   Martella, Maddalena ^a   Casarin, Alberto ^a   Opocher, Giuseppe ^a   Fabris, Fabrizio ^a  

^a UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

^b Ospedale 105   (Italy)

Author keywords

Chuvash polycythemia; Polycythemia; VHL gene

Indexed keywords

ERYTHROPOIETIN; VON HIPPEL LINDAU PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE ASSOCIATION; FAMILIAL DISEASE; GENE; GENE AMPLIFICATION; GENE EXPRESSION; GENE MUTATION; GENETIC PREDISPOSITION; HETEROZYGOTE; HUMAN; INFANT; MALE; NEUROFIBROMATOSIS; POLYCYTHEMIA; PRESCHOOL CHILD; VON HIPPEL LINDAU GENE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; CHILD, PRESCHOOL; ERYTHROPOIETIN; FEMALE; HETEROZYGOTE; HUMANS; INFANT; ITALY; MALE; MUTATION, MISSENSE; PHENOTYPE; POLYCYTHEMIA; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN;

EID: 20344370255     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Ang SO, Hirota K, Gordeuk VR, Jelinke J, Guan Y, Liu E, et al. Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. Nature Genetics 2002;32:614-21.
2. Pastore Y, Jelinek J, Ang S, Guan Y, Liu E, Jedlickova K, et al. Mutations in the VHL gene in sporadic apparently congenital polycythemia. Blood 2003;101:1591-5.
3. th Congress Int Soc Haematol, London UK, 1992. p. 298.
4. Murgia A, Martella M, Vinanzi C, Polli R, Perilongo G, Opocher G. Somatic mosaicism in von Hippel-Lindau disease. Hum Mutat 2000;15:114.
5. Crossey PA, Richards FM, Foster K, Green JS, Prowse A, Latif F, et al. Identification of intragenic mutations in the von Hippel-Lindau disease tumor-suppressor gene and correlation with disease phenotype. Hum Mol Genet 1994;3:1303-8.
6. Sergueeva A, Gordeuk V, Tokarev Y, Sokol L, Prchal JF, Prchal JT. Congenital polycythemia in Chuvashia. Blood 1997;89:2148-54.
7. Percy MJ, McMullin MF, Potter M, Treacy M, Watson WH, Lappin TRJ. Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry. Blood 2003; 102:1097-9.
8. Pastore Y, Jedlickova K, Guan Y, Liu E, Fahner J, Hasle H, et al. Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia. Am J Hum Genet 2003;73:412-9.
9. Cario H, Schwarz K, Jorch N, Kyank U, Petrides PE, Schneider DT, et al. Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presumable congenital erythrocytosis. Haematologica 2005;90:19-24.
10. Bento MC, Ko-Tung C, Guan Y, Liu E, Caldas G, Gatti RA, et al. Congenital polycythemia with homozygous mutations of von Hippel-Lindau gene: five new Caucasian patients. Haematologica 2005;90:128-9.