AI Article Synopsis
- - Juvenile hemochromatosis is a genetic disorder that leads to excessive iron storage, resulting in symptoms like hormonal issues and heart problems.
- - The gene responsible for this condition, originally thought to be named HFE2, is more appropriately labeled HJV since it doesn't belong to the HFE family.
- - Research on two families with juvenile hemochromatosis revealed new mutations in the HJV gene, supporting its role as the cause of the disease.
Article Abstract
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.
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| http://dx.doi.org/10.1182/blood-2004-01-0072 | DOI Listing |
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