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

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

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References

  1. Feder, J.N. et al. Nature Genet. 13, 399–408 (1996).

    Article  CAS  Google Scholar 

  2. Jazwinska, E.C. et al. Nature Genet. 14, 249–252 (1996).

    Article  CAS  Google Scholar 

  3. Carella, M. et al. Am. J. Hum. Genet. 60, 828–832 (1997).

    CAS  PubMed  PubMed Central  Google Scholar 

  4. Beutler, E. et al. Blood Cells Mol. Dis. 22, 187–194 (1996).

    Article  CAS  Google Scholar 

  5. The UK Haemochromatosis Consortium. Gut 41, 841–844 (1997).

  6. Camaschella, C. et al. Eur. J. Hum. Genet. 5, 371–375 (1997).

    CAS  PubMed  Google Scholar 

  7. Roetto, A. et al. Am. J. Hum. Genet. 64, 1388–1393 (1999).

    Article  CAS  Google Scholar 

  8. Piperno, A. et al. Gastroenterology. 114, 996–1002 (1998).

    Article  CAS  Google Scholar 

  9. Camaschella, C. et al. Hepatology. 29, 1563–1564 (1999).

    Article  CAS  Google Scholar 

  10. Kawabata, H. et al. J. Biol. Chem. 274, 20826–20832 (1999).

    Article  CAS  Google Scholar 

  11. Glockner, G. et al. Genome Res. 8, 1060–1073 (1998).

    Article  CAS  Google Scholar 

  12. Fleming, R.E. et al. Proc. Natl Acad. Sci. USA. 29, 2214–2219 (2000).

    Article  Google Scholar 

  13. Levy, J.E., Jin, O., Fujiwara, Y., Kuo, F. & Andrews, N.C. Nature Genet. 21, 396–399 (1999).

    Article  CAS  Google Scholar 

  14. Pietrangelo, A. et al. N. Engl. J. Med. 341, 725–732 (1999).

    Article  CAS  Google Scholar 

  15. Gordeuk, V. et al. N. Engl. J. Med.. 326, 95–100 (1992).

    Article  CAS  Google Scholar 

Download references

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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Camaschella, C., Roetto, A., Calì, A. et al. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet 25, 14–15 (2000). https://doi.org/10.1038/75534

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