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.
C Camaschella  1 ,  A Roetto ,  A Calì ,  M De Gobbi ,  G Garozzo ,  M Carella ,  N Majorano ,  A Totaro ,  P Gasparini
Affiliations
  • 1. Dipartimento di Scienze Cliniche e Biologiche, Università di Torino, Azienda Ospedaliera S.Luigi, Orbassano-Torino, Italy.
PMID: 10802645 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.