Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin.
Juvenile hemochromatosis is an early-onset form of iron storage disease characterized by hypogonadotrophic hypogonadism and cardiomyopathy. Recently, the putative causative gene (LOC148738) encoding a protein designated hemojuvelin was cloned. The previously proposed designation of this gene as HFE2 is contrary to established convention, because it is not a member of the HFE family. We suggest that it be designated HJV. We sequenced this gene in members of 2 previously reported kinships that manifest typical juvenile hemochromatosis. In one kinship, 2 previously undescribed mutations of HJV were identified, c.238T>C (C80R) and c.302T>C (L101P). In the second kinship, 2 previously identified mutations, G320V and I222N, were found. These studies confirm that mutations in HJV cause juvenile hemochromatosis.
Lee
Pauline L
PL
The Scripps Research Institute, Department of Molecular and Experimental Medicine, 10550 N Torrey Pines Road, La Jolla, CA 92037, USA.
Beutler
Ernest
E
Rao
Sreenivas V
SV
Barton
James C
JC
D000293:Adolescent; D000328:Adult; D000407:Alabama; D019943:Amino Acid Substitution; D002648:Child; D002869:Chromosome Aberrations; D017931:DNA Primers; D005260:Female; D058851:GPI-Linked Proteins; D005838:Genotype; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D044465:White People
D017931:DNA Primers; D058851:GPI-Linked Proteins; C481006:HJV protein, human; D000071020:Hemochromatosis Protein; D008565:Membrane Proteins