Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
نویسندگان
چکیده
منابع مشابه
Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin.
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 ...
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چکیده ندارد.
15 صفحه اولHomozygosity for a novel nonsense mutation (G66X) of the HJV gene causes severe juvenile hemochromatosis with fatal cardiomyopathy.
Juvenile hemochromatosis (JH) is a rare autosomal recessive disorder of iron metabolism. The early onset of severe iron overload and the frequent occurrence of cardiomyopathy, reduced glucose tolerance, and hypogonadism distinguish JH from the more common HFE-related hereditary hemochromatosis.1 JH is genetically heterogeneous: most families are related to the recently cloned hemojuvelin (HJV) ...
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ژورنال
عنوان ژورنال: American Journal of Case Reports
سال: 2020
ISSN: 1941-5923
DOI: 10.12659/ajcr.923108