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Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

Abstract

Animal models indicate that the antimicrobial peptide hepcidin (HAMP; OMIM 606464) is probably a key regulator of iron absorption in mammals. Here we report the identification of two mutations (93delG and 166C→T) in HAMP on 19q13 in two families with a new type of juvenile hemochromatosis.

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Figure 1: Detection of mutations in HAMP in families with juvenile hemochromatosis not linked to 1q.
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Acknowledgements

We thank D. Mavrogianni, I. Jibreel, F. Daraio and P. Porporato for technical support. We also thank the individuals with hemochromatosis and their families for their participation. This work was supported by grants from Telethon ONLUS Foundation, European Community and Italian Ministry of Instruction and University (to C.C.) and from the University of Athens (to D.L.).

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Correspondence to Clara Camaschella.

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The authors declare no competing financial interests.

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Roetto, A., Papanikolaou, G., Politou, M. et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet 33, 21–22 (2003). https://doi.org/10.1038/ng1053

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