Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients

Haematologica. 2005 Jan;90(1):128-9.

Abstract

We report on five Caucasian patients with congenital polycythemia and mutations of the von Hipple-Lindau (VHL) gene: a compound heterozygote for the novel exon 1 (VHL 235C->T) and previously reported VHL 562C->G mutations; three homozygotes for Chuvash VHL 598C->T mutation; and a heterozygote for VHL 523->G mutation who also has ataxia-telangiectasia; a rare autosomal disease of childhood onset.

Publication types

  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Female
  • Genes, Tumor Suppressor*
  • Heterozygote
  • Homozygote
  • Humans
  • Male
  • Point Mutation
  • Polycythemia / congenital*
  • Polycythemia / genetics*
  • White People / genetics*