Ferroportin disease: A systematic meta-analysis of clinical and molecular findings

Journal of Hepatology

Volumn 53, Issue 5, 2010, Pages 941-949

  Mayr, Roman ^a   Janecke, Andreas R ^a   Schranz, Melanie ^a   Griffiths, William J H ^b   Vogel, Wolfgang ^a   Pietrangelo, Antonello ^c   Zoller, Heinz ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^c UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

Author keywords

Bio informatics; FPN1; Hemochromatosis type IV; IREG1; Iron; PolyPhen; SLC11A3; SLC40A1

Indexed keywords

FERROPORTIN; TRANSFERRIN;

ARTICLE; BLOOD LEVEL; DNA POLYMORPHISM; FERROPORTIN DISEASE; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEMOCHROMATOSIS; HUMAN; HYPERFERRITINEMIA; IRON OVERLOAD; LIVER CIRRHOSIS; LIVER FIBROSIS; PRIORITY JOURNAL; SLC40A1 GENE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SEQUENCE; CATION TRANSPORT PROTEINS; CHILD; CHILD, PRESCHOOL; FEMALE; FERRITINS; HEMOCHROMATOSIS; HUMANS; IRON OVERLOAD; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, GENETIC; TRANSFERRIN;

EID: 77957340866     PISSN: 01688278     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jhep.2010.05.016     Document Type: Article

References (77)

1. P. Ponka Rare causes of hereditary iron overload Semin Hematol 39 2002 249 262
2. E. Corradini, F. Ferrara, T. Pollicino, A. Vegetti, G.L. Abbati, and L. Losi Disease progression and liver cancer in the ferroportin disease Gut 56 2007 1030 1032
3. A. Pietrangelo The ferroportin disease Blood Cells Mol Dis 32 2004 131 138
4. H. Zoller, and T.M. Cox Hemochromatosis: genetic testing and clinical practice Clin Gastroenterol Hepatol 3 2005 945 958
5. H. Drakesmith, L.M. Schimanski, E. Ormerod, A.T. Merryweather-Clarke, V. Viprakasit, and J.P. Edwards Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin Blood 106 2005 1092 1097 (Pubitemid 41076459)
6. L.M. Schimanski, H. Drakesmith, A.T. Merryweather-Clarke, V. Viprakasit, J.P. Edwards, and E. Sweetland In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations Blood 105 2005 4096 4102
7. I. De Domenico, E. Nemeth, J.M. Nelson, J.D. Phillips, R.S. Ajioka, and M.S. Kay The hepcidin-binding site on ferroportin is evolutionarily conserved Cell Metabol 8 2008 146 156
8. C.Y. Lok, A.T. Merryweather-Clarke, V. Viprakasit, Y. Chinthammitr, S. Srichairatanakool, and C. Limwongse Iron overload in the Asian community Blood 114 2009 20 25
9. D.F. Wallace, J.L. Dixon, G.A. Ramm, G.J. Anderson, L.W. Powell, and V.N. Subramaniam A novel mutation in ferroportin implicated in iron overload J Hepatol 46 2007 921 926
10. V. Viprakasit, A.T. Merryweather-Clarke, Y. Chinthammitr, L. Schimanski, H. Drakesmith, and S. Srichairatanakool Molecular diagnosis of the first ferroportin mutation (C326Y) in the Far East causing a dominant form of inherited iron overload ASH Annu Meeting Abstr 104 2004 3204
11. R.L. Sham, P.D. Phatak, E. Nemeth, and T. Ganz Hereditary hemochromatosis due to resistance to hepcidin: high hepcidin concentrations in a family with C326S ferroportin mutation Blood 114 2009 493 494
12. E. Letocart, G. Le Gac, S. Majore, C. Ka, F.C. Radio, and I. Gourlaouen A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin-associated iron overload diseases Br J Haematol 147 2009 379 385
13. A. Donovan, A. Brownlie, Y. Zhou, J. Shepard, S.J. Pratt, and J. Moynihan Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter Nature 403 2000 776 781
14. A.T. McKie, P. Marciani, A. Rolfs, K. Brennan, K. Wehr, and D. Barrow A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation Mol Cell 5 2000 299 309
15. S. Abboud, and D.J. Haile A novel mammalian iron-regulated protein involved in intracellular iron metabolism J Biol Chem 275 2000 19906 19912
16. I. De Domenico, E. Lo, D.M. Ward, and J. Kaplan Human mutation D157G in ferroportin leads to hepcidin-independent binding of Jak2 and ferroportin downregulation Blood 115 2010 2956 2959
17. A.E. Rice, M.J. Mendez, C.A. Hokanson, D.C. Rees, and P.J. Bjorkman Investigation of the biophysical and cell biological properties of ferroportin, a multipass integral membrane protein iron exporter J Mol Biol 386 2009 717 732
18. D.F. Wallace, J.M. Harris, and V.N. Subramaniam Functional analysis and theoretical modeling of ferroportin reveals clustering of mutations according to phenotype Am J Physiol Cell Physiol 298 2010 C75 C84
19. C. Pigeon, G. Ilyin, B. Courselaud, P. Leroyer, B. Turlin, and P. Brissot A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload J Biol Chem 276 2001 7811 7819
20. C.H. Park, E.V. Valore, A.J. Waring, and T. Ganz Hepcidin, a urinary antimicrobial peptide synthesized in the liver J Biol Chem 276 2001 7806 7810
21. P. Lee, H. Peng, T. Gelbart, and E. Beutler The IL-6- and lipopolysaccharide-induced transcription of hepcidin in HFE-, transferrin receptor 2-, and beta 2-microglobulin-deficient hepatocytes Proc Natl Acad Sci USA 101 2004 9263 9265
22. C. Vecchi, G. Montosi, K. Zhang, I. Lamberti, S.A. Duncan, and R.J. Kaufman ER stress controls iron metabolism through induction of hepcidin Science 325 2009 877 880
23. E. Nemeth, M.S. Tuttle, J. Powelson, M.B. Vaughn, A. Donovan, and D.M. Ward Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization Science 306 2004 2090 2093
24. A. Fernandes, G.C. Preza, Y. Phung, I. De Domenico, J. Kaplan, and T. Ganz The molecular basis of hepcidin-resistant hereditary hemochromatosis Blood 114 2009 437 443
25. R.L. Sham, P.D. Phatak, C. West, P. Lee, C. Andrews, and E. Beutler Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features Blood Cells Mol Dis 34 2005 157 161
26. S.R. Rivard, C. Lanzara, D. Grimard, M. Carella, H. Simard, and R. Ficarella 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
27. V.R. Gordeuk, A. Caleffi, E. Corradini, F. Ferrara, R.A. Jones, and O. Castro Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene Blood Cells Mol Dis 31 2003 299 304
28. L. McNamara, V.R. Gordeuk, and A.P. MacPhail Ferroportin (Q248H) mutations in African families with dietary iron overload J Gastroenterol Hepatol 20 2005 1855 1858
29. E. Beutler, J.C. Barton, V.J. Felitti, T. Gelbart, C. West, and P.L. Lee Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans Blood Cells Mol Dis 31 2003 305 309
30. P.C. Ng, and S. Henikoff SIFT: predicting amino acid changes that affect protein function Nucleic Acids Res 31 2003 3812 3814
31. S. Sunyaev, W. Lathe 3rd, and P. Bork Integration of genome data and protein structures: prediction of protein folds, protein interactions and "molecular phenotypes" of single nucleotide polymorphisms Curr Opin Struct Biol 11 2001 125 130
32. S. Sunyaev, V. Ramensky, I. Koch, W. Lathe 3rd, A.S. Kondrashov, and P. Bork Prediction of deleterious human alleles Hum Mol Genet 10 2001 591 597
33. V. Ramensky, P. Bork, and S. Sunyaev Human non-synonymous SNPs: server and survey Nucleic Acids Res 30 2002 3894 3900
34. L. Duca, P. Delbini, I. Nava, V. Vaja, G. Fiorelli, and M.D. Cappellini Mutation analysis of hepcidin and ferroportin genes in Italian prospective blood donors with iron overload Am J Hematol 84 2009 592 593
35. N.L. Sussman, P.L. Lee, A.M. Dries, M.R. Schwartz, and J.C. Barton Multi-organ iron overload in an African-American man with ALAS2 R452S and SLC40A1 R561G Acta Haematol 120 2008 168 173
36. Y. Song, Y.H. Hsu, T. Niu, J.E. Manson, J.E. Buring, and S. Liu Common genetic variants of the ion channel transient receptor potential membrane melastatin 6 and 7 (TRPM6 and TRPM7), magnesium intake, and risk of type 2 diabetes in women BMC Med Genet 10 2009 4
37. D.F. Easton, A.M. Deffenbaugh, D. Pruss, C. Frye, R.J. Wenstrup, and K. Allen-Brady A systematic genetic assessment of 1433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes Am J Hum Genet 81 2007 873 883
38. S. Pelucchi, R. Mariani, A. Salvioni, S. Bonfadini, A. Riva, and F. Bertola Novel mutations of the ferroportin gene (SLC40A1): analysis of 56 consecutive patients with unexplained iron overload Clin Genet 73 2008 171 178
39. O.T. Njajou, G. de Jong, B. Berghuis, N. Vaessen, P.J. Snijders, and J.P. Goossens Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristics Blood Cells Mol Dis 29 2002 439 443
40. V. Bach, A. Remacha, A. Altes, M.J. Barcelo, M.A. Molina, and M. Baiget Autosomal dominant hereditary hemochromatosis associated with two novel Ferroportin 1 mutations in Spain Blood Cells Mol Dis 36 2006 41 45
41. A.M. Jouanolle, V. Douabin-Gicquel, C. Halimi, O. Loreal, P. Fergelot, and T. Delacour Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload J Hepatol 39 2003 286 289
42. S. Cunat, M. Giansily Blaizot, M. Bismuth, F. Blanc, O. Dereure, and D. Larrey Global sequencing approach for characterizing the molecular background of hereditary iron disorders Clin Chem 53 2007 2060 2069
43. D. Girelli, I. De Domenico, C. Bozzini, N. Campostrini, F. Busti, and A. Castagna Clinical, pathological, and molecular correlates in ferroportin disease: a study of two novel mutations J Hepatol 49 2008 664 671
44. F.L. Lim, J.S. Dooley, A.W. Roques, L. Grellier, A.P. Dhillon, and A.P. Walker Hepatic iron concentration, fibrosis and response to venesection associated with the A77D and V162del "loss of function" mutations in ferroportin disease Blood Cells Mol Dis 40 2008 328 333
45. H. Zoller, I. McFarlane, I. Theurl, S. Stadlmann, E. Nemeth, and D. Oxley Primary iron overload with inappropriate hepcidin expression in V162del ferroportin disease Hepatology 42 2005 466 472
46. M. Speletas, A. Kioumi, G. Loules, P. Hytiroglou, J. Tsitouridis, and J. Christakis Analysis of SLC40A1 gene at the mRNA level reveals rapidly the causative mutations in patients with hereditary hemochromatosis type IV Blood Cells Mol Dis 40 2008 353 359
47. W. Liu, S. Shimomura, H. Imanishi, Y. Iwamoto, N. Ikeda, and M. Saito Hemochromatosis with mutation of the ferroportin 1 (IREG1) gene Intern Med (Tokyo, Japan) 44 2005 285 289
48. E. Corradini, G. Montosi, F. Ferrara, A. Caleffi, E. Pignatti, and S. Barelli Lack of enterocyte iron accumulation in the ferroportin disease Blood Cells Mol Dis 35 2005 315 318
49. G. Montosi, A. Donovan, A. Totaro, C. Garuti, E. Pignatti, and S. Cassanelli Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene J Clin Invest 108 2001 619 623
50. A. Pietrangelo, G. Montosi, A. Totaro, C. Garuti, D. Conte, and S. Cassanelli Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene N Engl J Med 341 1999 725 732
51. V.N. Subramaniam, D.F. Wallace, J.L. Dixon, L.M. Fletcher, and D.H. Crawford Ferroportin disease due to the A77D mutation in Australia Gut 54 2005 1048 1049
52. I. De Domenico, D. McVey Ward, E. Nemeth, T. Ganz, E. Corradini, and F. Ferrara Molecular and clinical correlates in iron overload associated with mutations in ferroportin Haematologica 91 2006 1092 1095
53. O.T. Njajou, N. Vaessen, B. Oostra, P. Heutink, and C.M. Van Duijn The hemochromatosis N144H mutation of SLC11A3 gene in patients with type 2 diabetes Mol Genet Metab 75 2002 290 291
54. O.T. Njajou, N. Vaessen, M. Joosse, B. Berghuis, J.W. van Dongen, and M.H. Breuning A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis Nat Genet 28 2001 213 214
55. K.E. Arden, D.F. Wallace, J.L. Dixon, L. Summerville, J.W. Searle, and G.J. Anderson A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient Gut 52 2003 1215 1217
56. G. Hetet, I. Devaux, N. Soufir, B. Grandchamp, and C. Beaumont 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
57. M. Cazzola, L. Cremonesi, M. Papaioannou, N. Soriani, A. Kioumi, and A. Charalambidou 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
58. M. Politou, V. Kalotychou, M. Pissia, Y. Rombos, N. Sakellaropoulos, and G. Papanikolaou The impact of the mutations of the HFE gene and of the SLC11A3 gene on iron overload in Greek thalassemia intermedia and beta(s)/beta(thal) anemia patients Haematologica 89 2004 490 492
59. A. Roetto, A.T. Merryweather-Clarke, F. Daraio, K. Livesey, J.J. Pointon, and G. Barbabietola A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4 Blood 100 2002 733 734
60. D.F. Wallace, P. Pedersen, J.L. Dixon, P. Stephenson, J.W. Searle, and L.W. Powell Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis Blood 100 2002 692 694
61. D.F. Wallace, P. Browett, P. Wong, H. Kua, R. Ameratunga, and V.N. Subramaniam Identification of ferroportin disease in the Indian subcontinent Gut 54 2005 567 568
62. L. Cremonesi, G.L. Forni, N. Soriani, M. Lamagna, I. Fermo, and F. Daraio Genetic and clinical heterogeneity of ferroportin disease Br J Haematol 131 2005 663 670
63. T.J. Morris, M.M. Litvinova, D. Ralston, A. Mattman, D. Holmes, and G. Lockitch A novel ferroportin mutation in a Canadian family with autosomal dominant hemochromatosis Blood Cells Mol Dis 35 2005 309 314
64. C. Bozzini, N. Campostrini, P. Trombini, E. Nemeth, A. Castagna, and I. Tenuti Measurement of urinary hepcidin levels by SELDI-TOF-MS in HFE-hemochromatosis Blood Cells Mol Dis 40 3 2008 347 352
65. M.G. Zaahl, A.T. Merryweather-Clarke, M.J. Kotze, S. van der Merwe, L. Warnich, and K.J. Robson Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload Hum Genet 115 2004 409 417
66. P.L. Lee, T. Gelbart, C. West, and J.C. Barton SLC40A1 c.1402G→a results in aberrant splicing, ferroportin truncation after glycine 330, and an autosomal dominant hemochromatosis phenotype Acta Haematol 118 2007 237 241
67. C. Koyama, S. Wakusawa, H. Hayashi, T. Ueno, R. Suzuki, and M. Yano A Japanese family with ferroportin disease caused by a novel mutation of SLC40A1 gene: hyperferritinemia associated with a relatively low transferrin saturation of iron Intern Med (Tokyo, Japan) 44 2005 990 993
68. W.J. Griffiths, R. Mayr, I. McFarlane, M. Hermann, D.J. Halsall, and H. Zoller Clinical presentation and molecular pathophysiology of autosomal dominant hemochromatosis caused by a novel ferroportin mutation Hepatology 51 2009 788 795
69. T. Xi, I.M. Jones, and H.W. Mohrenweiser Many amino acid substitution variants identified in DNA repair genes during human population screenings are predicted to impact protein function Genomics 83 2004 970 979
70. R.V. Andersen, A. Tybjaerg-Hansen, M. Appleyard, H. Birgens, and B.G. Nordestgaard Hemochromatosis mutations in the general population: iron overload progression rate Blood 103 2004 2914 2919
71. K.J. Allen, L.C. Gurrin, C.C. Constantine, N.J. Osborne, M.B. Delatycki, and A.J. Nicoll Iron-overload-related disease in HFE hereditary hemochromatosis N Engl J Med 358 2008 221 230
72. M. Beaton, D. Guyader, Y. Deugnier, R. Moirand, S. Chakrabarti, and P. Adams Noninvasive prediction of cirrhosis in C282Y-linked hemochromatosis Hepatology 36 2002 673 678
73. A. Pietrangelo, E. Corradini, F. Ferrara, A. Vegetti, G. De Jong, and G. Luca Abbati Magnetic resonance imaging to identify classic and nonclassic forms of ferroportin disease Blood Cells Mol Dis 37 2006 192 196
74. A. Fernandes, G.C. Preza, Y. Phung, I. De Domenico, J. Kaplan, and T. Ganz The molecular basis of hepcidin-resistant hereditary hemochromatosis Blood 114 2009 437 443
75. H. Drakesmith, L.M. Schimanski, E. Ormerod, A.T. Merryweather-Clarke, V. Viprakasit, and J.P. Edwards Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin Blood 106 2005 1092 1097 (Pubitemid 41076459)
76. G. Miltenberger-Miltenyi, T. Schwarzbraun, W.N. Loscher, J. Wanschitz, C. Windpassinger, and H.C. Duba Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations Eur J Hum Genet 17 2009 1154 1159
77. J.K. Olynyk, T.G. St Pierre, R.S. Britton, E.M. Brunt, and B.R. Bacon Duration of hepatic iron exposure increases the risk of significant fibrosis in hereditary hemochromatosis: a new role for magnetic resonance imaging Am J Gastroenterol 100 4 2005 837 841