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Blood, 1 June 2004, Vol. 103, No. 11, pp. 4317-4321. Prepublished online as a Blood First Edition Paper on February 24, 2004; DOI 10.1182/blood-2004-01-0192. This Article Full Text (PDF) All Versions of this Article: 2004-01-0192v1 103/11/4317    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Lanzara, C. Articles by Camaschella, C. Search for Related Content PubMed PubMed Citation Articles by Lanzara, C. Articles by Camaschella, C. Social Bookmarking                   What's this? Submitted January 20, 2004 Accepted February 11, 2004 The spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis Carmela Lanzara, Antonella Roetto, Filomena Daraio, Silvain Rivard, Romina Ficarella, Hervey Simard, Timothy Cox, Mario Cazzola, Alberto Piperno, Anne-Paule Gimenez-Roqueplo, Paola Grammatico, Stefano Volinia, Paolo Gasparini, and Clara Camaschella* Genetica Medica Dipartimento di Patologia generale, II Universita di Napoli, Napoli, Italy; Tigem (Telethon Institute of genetics and Medicine, Napoli, Italy Dipartimento di Scienze Cliniche e biologiche Azienda Ospedaliera San Luigi Gonzaga, Universita di Torino, Orbassano, Torino, Italy Sagen Pharma, Ville de Saguenay, Quebec, Canada Genetica Medica Dipartimento di Patologia generale, II Universita di Napoli, Napoli, Italy Department of Medicine., University of Cambridge, Cambridge, United Kingdom Dipartimento di Medicina Interna, IRCCS Policlinico San Matteo, Pavia, Italy Clinica Medica, Azienda Ospedaliera San Gerardo, Monza, Italy Departement de Genetique Moleculaire, Hopital Europeen Georges Pompidou, Paris, France genetica medica, Dipartimento di Medicina Sperimentale e Patologia, Universita La Sapienza, Roma, Italy Dipartimento di Morfologia ed Embriologia, Laboratorio di Genomica Funzionale, Universita degli Studi di Ferrara, Ferrara, Italy * Corresponding author; email: clara.camaschella{at}unito.it. Juvenile or type 2 hemochromatosis (JH) is transmitted as a recessive trait that leads to severe iron overload and organ damage typically before 30 years. Linkage to a locus on chromosome 1q has been found in most patients with JH. The recently identified causal gene encodes hemojuvelin, a protein with a proposed crucial role in iron metabolism. A second, rare type of JH, with clinical expression identical to the 1q-linked form, is due to inactivation of hepcidin, the key regulator of iron homeostasis. Here we report the spectrum of mutations of the hemojuvelin gene (HJV) in 34 patients who did not show hepcidin mutations. This represents the largest cohort of JH patients worldwide collected. We identified 17 different (16 novel) mutations of HJV, both at the homozygous and at the compound heterozygous state. Mutations either generate premature termination codons or were missense substitutions, affecting highly conserved residues, relevant to the protein structure and/or function. 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