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

C Camaschella, A Roetto, A Caĺ, M De Gobbi… - Nature …, 2000 - nature.com
C Camaschella, A Roetto, A Caĺ, M De Gobbi, G Garozzo, M Carella, N Majorano, A Totaro…
Nature genetics, 2000nature.com
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 6
(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.
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 6 (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.
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