Juvenile hemochromatosis and hepatocellular carcinoma in a patient with a novel mutation in the HJV gene

• Published in: European journal of medical genetics Vol. 60; no. 6; pp. 308 - 311
• Main Authors: Ramzan, Khushnooda, Imtiaz, Faiqa, Al-Ashgar, Hamad I, AlSayed, Moeenaldeen, Sulaiman, Raashda A
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Masson SAS 01.06.2017
• Subjects: Adult; Arabs; Carcinoma, Hepatocellular - complications; Carcinoma, Hepatocellular - diagnosis; Carcinoma, Hepatocellular - genetics; Cardiomyopathy; Exons; Hemochromatosis - complications; Hemochromatosis - congenital; Hemochromatosis - diagnosis; Hemochromatosis - ethnology; Hemochromatosis - genetics; Hemochromatosis Protein - genetics; Hepatocellular carcinoma; HJV/HFE2 mutation; Homozygote; Humans; Hypogonadism; Juvenile hemochromatosis; Liver Neoplasms - complications; Liver Neoplasms - diagnosis; Liver Neoplasms - genetics; Male; Medical Education; Mutation, Missense; Hepatocellular carcinoma; Mutation; Juvenile hemochromatosis; Cardiomyopathy; HJV/ HFE2; Hypogonadism; HJV/HFE2 mutation
• ISSN: 1769-7212; 1878-0849
• DOI: 10.1016/j.ejmg.2017.03.011

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 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.