title: Juvenile hemochromatosis and hepatocellular carcinoma in a patient with a novel mutation in the HJV gene.
abstract: Juvenile hemochromatosis is a rare but the most severe form of hereditary hemochromatosis which develops due to mutations in the HJV or HAMP genes. It presents in the early adulthood mainly as cardiomyopathy, hypogonadism and liver fibrosis. Unlike hereditary hemochromatosis due to HFE mutation, hepatocellular carcinoma is not known to be associated with juvenile hemochromatosis. Here, we report a patient of Arab ancestry who presented with severe cardiomyopathy. Sequence analysis of the HJV gene followed by homozygosity mapping, identified a previously undescribed homozygous missense variation in exon 3 (c.497A > G; p.H166R) in both the proband and his clinically asymptomatic brother. The former, later developed hepatocellular carcinoma. To the best of our knowledge, neither the mutation identified in our patient, nor a case of juvenile hemochromatosis with hepatocellular carcinoma has been reported before.
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: Khushnooda
authors.initials: K
authors.lastname: Ramzan
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: Faiqa
authors.initials: F
authors.lastname: Imtiaz
authors.affiliation: Department of Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: Hamad I
authors.initials: HI
authors.lastname: Al-Ashgar
authors.affiliation: Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
authors.forename: Moeenaldeen
authors.initials: M
authors.lastname: AlSayed
authors.affiliation: Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. Electronic address: rsulaiman@kfshrc.edu.sa.
authors.forename: Raashda A
authors.initials: RA
authors.lastname: Sulaiman
mesh_terms: D000328:Adult; D018912:Arabs; D006528:Carcinoma, Hepatocellular / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D005091:Exons; D006432:Hemochromatosis / Q000150:complications / Q000151:congenital* / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics; D000071020:Hemochromatosis Protein / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008113:Liver Neoplasms / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein
keywords: Cardiomyopathy; HJV/HFE2 mutation; Hepatocellular carcinoma; Hypogonadism; Juvenile hemochromatosis