A novel mutation in ferroportin 1 is associated with haemochromatosis in a Solomon Islands patient

Gut

Volumn 52, Issue 8, 2003, Pages 1215-1217

  Arden, K E ^a   Wallace, D F ^a   Dixon, J L ^a   Summerville, L ^a   Searle, J W ^b   Anderson, G J ^a,b   Ramm, G A ^a,b   Powell, L W ^a,b   Subramaniam, Nathan ^a,b  

^a QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ENDONUCLEASE; GENOMIC DNA; CATION TRANSPORT PROTEIN; HFE PROTEIN, HUMAN; HLA ANTIGEN CLASS 1; MEMBRANE PROTEIN; METAL TRANSPORTING PROTEIN 1;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CLINICAL FEATURE; CLINICAL GENETICS; DISEASE ASSOCIATION; DISEASE SEVERITY; DNA ISOLATION; ENZYME ASSAY; EXON; FERROPORTIN 1 GENE; GENE; GENE SEQUENCE; GENETIC CODE; HEMOCHROMATOSIS; HUMAN; HUMAN TISSUE; IRON OVERLOAD; LEUKOCYTE; LIVER BIOPSY; MALE; MASS SCREENING; MISSENSE MUTATION; PATHOGENESIS; POPULATION GENETICS; PRIORITY JOURNAL; RNA SPLICING; SOLOMON ISLANDS; DNA SEQUENCE; GENETICS; MELANESIA; MIDDLE AGED;

CATION TRANSPORT PROTEINS; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; MALE; MELANESIA; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION, MISSENSE; SEQUENCE ANALYSIS, DNA;

EID: 0037622887     PISSN: 00175749     EISSN: None     Source Type: Journal    
DOI: 10.1136/gut.52.8.1215     Document Type: Article

References (15)

1. Bothwell TH, Charlton RW, Motulsky AG. Hemochromatosis. In: Scriver CR, Beaudet AL, Sly WS, et al, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill; 1995:2237-69.
2. Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996;13:399-408.
3. Roetto A, Totaro A, Cazzola M, et al. The juvenile hemochromatosis locus maps to chromosome 1q. Am J Hum Genet 1999;64:1388-93.
4. Roetto A, Papanikolaou G, Politou M, et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet 2003;33:21-2.
5. Camaschella C, Roetto A, Cali A, et al. The gene TfR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet 2000;25:14-5.
6. Njajou OT, Vaessen N, Joosse M, et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet 2001;28:213-14.
7. Montosi G, Donovan A, Totaro A, et al. Autosomal dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest 2001;108:619-23.
8. Donovan A, Brownlie A, Zhou Y, et al. Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter. Nature 2000;403:778-81.
9. McKie AT, Marciani P, Rolfs A, et al. A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation. Mol Cell 2000;5:299-309.
10. Abboud S, Haile DJ. A novel mammalian iron-regulated protein involved in intracellular iron metabolism. J Biol Chem 2000;275:19906-12.
11. Wallace DF, Pedersen P, Dixon JL, et al. Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis. Blood 2002;100:692-4.
12. Devalia V, Carter K, Walker AP, et al. Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3). Blood 2002;100:695-7.
13. Roetto A, Merryweather-Clarke AT, Daraio F, et al. A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4. Blood 2002;100:733-4.
14. Cazzola M, Cremonesi L, Papaioannou M, et al. Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3). Br J Haematol 2002;119:539-46
15. Eason RJ, Adams PC, Aston CE, et al. Familial iron overload with possible autosomal dominant inheritance. Aust NZ J Med 1990;20:226-30.