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Phenotypic and functional data confirm causality of the recently identified hemojuvelin p.r176c missense mutation

Inserm, U613, Brest; Universitè de Bretagne Occidentale, Brest; Etablissement Français du Sang, Brest (CK, GLG, EL, IG, CF); Etablissement Français du Sang, Niort (BM); CHU Brest, Service de Génétique Moléculaire, Brest, France (CF)

Correspondence: Gerald Le Gac, Inserm U613, EFS, Bretagne, 46, rue Félix Le Dantec, 29200 Brest, France. Phone: international +33.02.98445064. Fax: international +33.02.98430555. E-mail: gerald.legac{at}univ-brest.fr

In the present study, we correlate homozygosity for the very recently identified HJV p.R176C substitution with a juvenile hemochromatosis phenotype. We also show that the p.R176C variant fails to up-regulate the hepcidin promoter activity. Altogether, our results definitively show the R176C amino-acid change to be a novel hemojuvelin loss-of-function mutation.

Key words: juvenile haemochromatosis, HJV, hemojuveline dysfunction, hepcidin synthesis.