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

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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 15). 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.

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Acknowledgements

We thank E. Gottardi and D. Cilloni for technical support. YAC clones were obtained from the Yac Screening Center (Dibit). This work was supported by Telethon (grant E. 679), E.C. (Contract QLK6-1999-02237), Italian Ministry of Health, Italian Ministry of University and Technologic Research, and CNR-PF Biotecnologie.

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Correspondence to Paolo Gasparini.

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Further reading

Figure 1: TFR2 mutational results.
Figure 2: TFR2 map and homozygosity region.