Phenotypic and functional data confirm causality of the recently identified hemojuvelin p.r176c missense mutation.
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.
Ka
Chandran
C
Le Gac
Gérald
G
Letocart
Emilie
E
Gourlaouen
Isabelle
I
Martin
Brigitte
B
Férec
Claude
C
D000293:Adolescent; D019943:Amino Acid Substitution; D023181:Antimicrobial Cationic Peptides / Q000235:genetics / Q000378:metabolism; D005260:Female; D058851:GPI-Linked Proteins; D005838:Genotype; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D064451:Hepcidins; D006720:Homozygote; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D010641:Phenotype; D011401:Promoter Regions, Genetic
D023181:Antimicrobial Cationic Peptides; D058851:GPI-Linked Proteins; C578702:HAMP protein, human; C481006:HJV protein, human; D000071020:Hemochromatosis Protein; D064451:Hepcidins; D008565:Membrane Proteins