Juvenile hemochromatosis and hepatocellular carcinoma in a patient with a novel mutation in the HJV gene.
PMID 28363629 | DOI 10.1016/j.ejmg.2017.03.011 · European journal of medical genetics · 2017
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.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HJV | “Juvenile hemochromatosis and hepatocellular carcinoma in a patient with a novel mutation in the HJV gene.” | 0.98 | hgnc_dict_v1 |
| gene | HAMP | “Juvenile hemochromatosis is a rare but the most severe form of hereditary hemochromatosis which develops due to mutations in the HJV or HAMP genes.” | 0.98 | hgnc_dict_v1 |
| gene | HFE | “Unlike hereditary hemochromatosis due to HFE mutation, hepatocellular carcinoma is not known to be associated with juvenile hemochromatosis.” | 0.98 | hgnc_dict_v1 |
| phenotype | hepatocellular carcinoma | “Juvenile hemochromatosis and hepatocellular carcinoma in a patient with a novel mutation in the HJV gene.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | cardiomyopathy | “It presents in the early adulthood mainly as cardiomyopathy, hypogonadism and liver fibrosis.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.H166R | “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.” | 0.95 | hgvs_regex_v1 |