The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
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- 1 May 2000
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 25 (1), 14-15
- https://doi.org/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, 2, 3, 4, 5). A locus for juvenile haemochromatosis6 (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.Keywords
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