Identification of a novel mutation (C321X) in HJV.
Juvenile hemochromatosis is a rare autosomal recessive disorder characterized by the early onset of severe iron overload. We report the occurrence of compound heterozygous mutations in hemojuvelin (HJV), including a termination codon, in a patient with juvenile hemochromatosis but no family history of iron disorders.
Huang
Franklin W
FW
Division of Medical Sciences, Harvard University, Boston, MA, USA.
Rubio-Aliaga
Isabel
I
Kushner
James P
JP
Andrews
Nancy C
NC
Fleming
Mark D
MD
D000328:Adult; D001706:Biopsy; D018389:Codon, Nonsense; D017931:DNA Primers / Q000737:chemistry; D005192:Family Health; D005260:Female; D058851:GPI-Linked Proteins; D006432:Hemochromatosis / Q000175:diagnosis* / Q000235:genetics*; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D006801:Humans; D007501:Iron / Q000378:metabolism; D008099:Liver / Q000473:pathology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D020125:Mutation, Missense; D017434:Protein Structure, Tertiary
D018389:Codon, Nonsense; D017931:DNA Primers; D058851:GPI-Linked Proteins; C481006:HJV protein, human; D000071020:Hemochromatosis Protein; D008565:Membrane Proteins; D007501:Iron