title: Juvenile hemochromatosis due to G320V/Q116X compound heterozygosity of hemojuvelin in an Irish patient.
abstract: Hemojuvelin (HJV) is a recently discovered gene responsible for 1q-linked juvenile hemochromatosis. The majority of mutations characterized in this gene are rare and private, except G320V, identified in patients from different countries. Here, we report the clinical features and the molecular study of a young Irish patient presenting with severe cardiac disease related to iron overload. We sequenced the coding region and the exon-intron boundaries of genes associated with juvenile hemochromatosis, HAMP and HJV encoding hepcidin and hemojuvelin respectively. Two heterozygous HJV mutations were identified: the G320V mutation and the new Q116X mutation that cause a premature stop codon in the protein. This finding increases the number of mutations identified in HJV gene and underlines that the G320V is a recurrent mutation, even in Northern Europe.
authors.affiliation: Dipartimento di Scienze Cliniche e Biologiche, Università di Torino, Azienda Ospedaliera San Luigi, Orbassano, Torino, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Daraio
authors.forename: E
authors.initials: E
authors.lastname: Ryan
authors.forename: F
authors.initials: F
authors.lastname: Gleeson
authors.forename: A
authors.initials: A
authors.lastname: Roetto
authors.forename: J
authors.initials: J
authors.lastname: Crowe
authors.forename: C
authors.initials: C
authors.lastname: Camaschella
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution; D018389:Codon, Nonsense; D005260:Female; D058851:GPI-Linked Proteins; D006331:Heart Diseases / Q000209:etiology; D006432:Hemochromatosis / Q000209:etiology / Q000235:genetics*; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D006801:Humans; D007494:Ireland; D019190:Iron Overload / Q000150:complications; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense
chemical_list: D018389:Codon, Nonsense; D058851:GPI-Linked Proteins; C481006:HJV protein, human; D000071020:Hemochromatosis Protein; D008565:Membrane Proteins