The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22

Nat Genet. 2000 May;25(1):14-5. doi: 10.1038/75534.

Abstract

Haemochromatosis is a common recessive disorder characterized by progressive iron overload, which may lead to severe clinical complications. Most patients are homozygous for the C282Y mutation in HFE on 6p (refs 1-5). A locus for juvenile haemochromatosis (HFE2) maps to 1q (ref. 7). Here we report a new locus (HFE3) on 7q22 and show that a homozygous nonsense mutation in the gene encoding transferrin receptor-2 (TFR2) is found in people with haemochromatosis that maps to HFE3.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 7 / genetics*
  • Codon, Nonsense / genetics
  • Female
  • Hemochromatosis / genetics*
  • Humans
  • Male
  • Mice
  • Mutation / genetics*
  • Pedigree
  • Receptors, Transferrin / genetics*

Substances

  • Codon, Nonsense
  • Receptors, Transferrin
  • TFR2 protein, human
  • TFR2 protein, mouse