Identification of a novel mutation in the HAMP gene that causes non-detectable hepcidin molecules in a Japanese male patient with juvenile hemochromatosis.
Blood Cells Mol Dis
; 48(3): 179-82, 2012 Mar 15.
Article
en En
| MEDLINE
| ID: mdl-22297252
ABSTRACT
Hepcidin is an iron-regulatory hepatic peptide hormone encoded by the HAMP gene that downregulates iron export from enterocytes and macrophages into the blood plasma. In this study, we identified a novel mutation in the HAMP gene of a 58-year-old Japanese male patient with hemochromatosis. By direct sequencing of the five hereditary hemochromatosis-related genes, HFE, HAMP, HJV, TFR2, and SLC40A1, the previously unreported p.R75X mutation was identified, and the patient was found to be homozygous for the mutation. No other potentially pathogenic mutations were detected. In an LC-MS/MS analysis, hepcidin molecules were not detected in the patient's serum or urine. These results indicate that the p.R75X mutation causes iron overload by impairing the hepcidin system.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Péptidos Catiónicos Antimicrobianos
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Hemocromatosis
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Mutación
Tipo de estudio:
Diagnostic_studies
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Etiology_studies
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Prognostic_studies
Límite:
Humans
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Male
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Middle aged
País como asunto:
Asia
Idioma:
En
Año:
2012
Tipo del documento:
Article