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, 2000•nature.comHaemochromatosis 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.
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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