Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

  • Nat Genet. 2003 Jan;33(1):21-2. doi: 10.1038/ng1053.
Antonella Roetto  1 ,  George Papanikolaou ,  Marianna Politou ,  Federica Alberti ,  Domenico Girelli ,  John Christakis ,  Dimitris Loukopoulos ,  Clara Camaschella
Affiliations
  • 1. Department of Clinical and Biological Sciences, University of Torino, Azienda Ospedaliera San Luigi, 10043 Orbassano, Torino, Italy.
PMID: 12469120 DOI: 10.1038/ng1053
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.