Autosomal dominant iron overload due to a novel mutation of ferroportin1 associated with parenchymal iron loading and cirrhosis

Journal of Hepatology

Volumn 40, Issue 4, 2004, Pages 710-713

  Wallace, Daniel F ^a   Clark, Roslyn M ^a   Harley, Hugh A J ^c   Subramaniam, V Nathan ^a,b  

^a QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF QUEENSLAND   (Australia)

^c ROYAL ADELAIDE HOSPITAL   (Australia)

Author keywords

Autosomal dominant; Cirrhosis; Ferroportin1; Haemochromatosis; Iron overload

Indexed keywords

FERRITIN; FERROPORTIN 1; TRANSFERRIN;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; AUSTRALIA; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; BIOACCUMULATION; BLOOD ANALYSIS; CASE REPORT; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DISEASE SEVERITY; FEMALE; FERRITIN BLOOD LEVEL; GENE IDENTIFICATION; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; IRON OVERLOAD; KUPFFER CELL; LIVER CIRRHOSIS; LIVER FIBROSIS; MALE; PARENCHYMA; PHENOTYPE; PRIORITY JOURNAL; RETICULOENDOTHELIAL SYSTEM; SARCOIDOSIS; SEQUENCE ANALYSIS; TRANSFERRIN BLOOD LEVEL;

ADULT; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CATION TRANSPORT PROTEINS; DNA; EXONS; FEMALE; GENES, DOMINANT; HUMANS; IRON OVERLOAD; LIVER CIRRHOSIS; MALE; MIDDLE AGED; PHENOTYPE; POINT MUTATION;

EID: 1642280929     PISSN: 01688278     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jhep.2003.12.008     Document Type: Article

References (22)

1. Bothwell T.H., Charlton R.W., Motulsky A.G. Hemochromatosis. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. The metabolic and molecular bases of inherited disease. 7th ed. 1995;2237-2269 McGraw-Hill, New York, NY.
2. Feder J.N., Gnirke A., Thomas W., Tsuchihashi Z., Ruddy D.A., Basava A., et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 13:1996;399-408.
3. Roetto A., Papanikolaou G., Politou M., Alberti F., Girelli D., Christakis J., et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet. 33:2003;21-22.
4. Roetto A., Totaro A., Cazzola M., Cicilano M., Bosio S., D'Ascola G., et al. The juvenile hemochromatosis locus maps to chromosome 1q. Am J Hum Genet. 64:1999;1388-1393.
5. Camaschella C., Roetto A., Cali A., De Gobbi M., Garozzo G., Carella M., et al. The gene TfR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet. 25:2000;14-15.
6. Njajou O.T., Vaessen N., Joosse M., Berghuis B., van Dongen J.W., Breuning M.H., et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet. 28:2001;213-214.
7. Montosi G., Donovan A., Totaro A., Garuti C., Pignatti E., Cassanelli S., et al. Autosomal dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest. 108:2001;619-623.
8. Donovan A., Brownlie A., Zhou Y., Shepard J., Pratt S.J., Moynihan J., et al. Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter. Nature. 403:2000;778-781.
9. McKie A.T., Marciani P., Rolfs A., Brennan K., Wehr K., Barrow D., et al. A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation. Mol Cell. 5:2000;299-309.
10. Abboud S., Haile D.J. A novel mammalian iron-regulated protein involved in intracellular iron metabolism. J Biol Chem. 275:2000;19906-19912.
11. Wallace D.F., Pedersen P., Dixon J.L., Stephenson P., Searle J.W., Powell L.W., et al. Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis. Blood. 100:2002;692-694.
12. Devalia V., Carter K., Walker A.P., Perkins S.J., Worwood M., May A., et al. Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3). Blood. 100:2002;695-697.
13. Roetto A., Merryweather-Clarke A.T., Daraio F., Livesey K., Pointon J.J., Barbabietola G., et al. A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4. Blood. 100:2002;733-734.
14. Cazzola M., Cremonesi L., Papaioannou M., Soriani N., Kioumi A., Charalambidou A., 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. 119:2002;539-546.
15. Arden K.E., Wallace D.F., Dixon J.L., Summerville L., Searle J.W., Anderson G.J., et al. A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient. Gut. 52:2003;1215-1217.
16. Jouanolle A.M., Douabin-Gicquel V., Halimi C., Loreal O., Fergelot P., Delacour T., et al. Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload. J Hepatol. 39:2003;286-289.
17. Rivard S.R., Lanzara C., Grimard D., Carella M., Simard H., Ficarella R., et al. Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family. Haematologica. 88:2003;824-826.
18. Hetet G., Devaux I., Soufir N., Grandchamp B., Beaumont C. Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations. Blood. 102:2003;1904-1910.
19. Eason R.J., Adams P.C., Aston C.E., Searle J. Familial iron overload with possible autosomal dominant inheritance. Aust N Z J Med. 20:1990;226-230.
20. Pietrangelo A., Montosi G., Totaro A., Garuti C., Conte D., Cassanelli S., et al. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. N Engl J Med. 341:1999;725-732.
21. Devaney K., Goodman Z.D., Epstein M.S., Zimmerman H.J., Ishak K.G. Hepatic sarcoidosis. Clinicopathologic features in 100 patients. Am J Surg Pathol. 17:1993;1272-1280.
22. Halliday J.W., Searle J. Hepatic iron deposition in human disease and animal models. Biometals. 9:1996;205-209.