title: HAMP gene mutation c.208T>C (p.C70R) identified in an Italian patient with severe hereditary hemochromatosis.
abstract: Hepcidin is a recently identified hormone peptide involved in regulation of iron homeostasis. HAMP gene mutations have been described to date in five families with iron overload. We have identified the c.208T>C (p.C70R) mutation in the HAMP gene in a patient affected by a severe form of hereditary hemochromatosis. The variant, occurring in a highly conserved amino acid, disrupts one of the 4 intramolecular disulphide bonds present in hepcidin molecules of all vertebrates, and is presumably able to destabilize the peptide structure. The investigated patient was also found to harbor a heterozygous HFE c.845G>A (p.C282Y) mutation that may have contributed in increasing his iron burden.
authors.affiliation: Medical Genetics, Experimental Medicine and Pathology Department, University La Sapienza, S. Camillo-Forlanini Hospital, Rome, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Majore
authors.forename: F
authors.initials: F
authors.lastname: Binni
authors.forename: A
authors.initials: A
authors.lastname: Pennese
authors.forename: A
authors.initials: A
authors.lastname: De Santis
authors.forename: A
authors.initials: A
authors.lastname: Crisi
authors.forename: P
authors.initials: P
authors.lastname: Grammatico
mesh_terms: D019943:Amino Acid Substitution; D023181:Antimicrobial Cationic Peptides / Q000235:genetics*; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics*; D064451:Hepcidins; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree
chemical_list: D023181:Antimicrobial Cationic Peptides; C578702:HAMP protein, human; D064451:Hepcidins