The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.
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.
Camaschella
C
C
Dipartimento di Scienze Cliniche e Biologiche, Università di Torino, Azienda Ospedaliera S.Luigi, Orbassano-Torino, Italy.
Roetto
A
A
Calì
A
A
De Gobbi
M
M
Garozzo
G
G
Carella
M
M
Majorano
N
N
Totaro
A
A
Gasparini
P
P
D000818:Animals; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D018389:Codon, Nonsense / Q000235:genetics; D005260:Female; D006432:Hemochromatosis / Q000235:genetics*; D006801:Humans; D008297:Male; D051379:Mice; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011990:Receptors, Transferrin / Q000235:genetics*
D018389:Codon, Nonsense; D011990:Receptors, Transferrin; C503640:TFR2 protein, human; C503641:TFR2 protein, mouse