Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations

Blood

Volumn 102, Issue 5, 2003, Pages 1904-1910

  Hetet, Gilles ^b   Devaux, Isabelle ^b   Soufir, Nadem ^b   Grandchamp, Bernard ^b   Beaumont, Carole ^a  

^a INSERM   (France)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN; FERROPORTIN; H FERRITIN; L FERRITIN; PROTEIN; TRANSFERRIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CATARACT; CHILD; CONTROLLED STUDY; DIAGNOSTIC APPROACH ROUTE; EXON; FAMILY HISTORY; FEMALE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENOTYPE; HEMOCHROMATOSIS; HEREDITARY HYPERFERRITINEMIA CATARACT SYNDROME; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERFERRITINEMIA; INBORN ERROR OF METABOLISM; IRON BLOOD LEVEL; IRON RESPONSIVE ELEMENT; LENS; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; ONSET AGE; POINT MUTATION; PRIORITY JOURNAL; REFERENCE VALUE;

EID: 0037860450     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2003-02-0439     Document Type: Article

References (34)

1. Harrison PM, Arosio P. The ferritins: molecular properties, iron storage function and cellular regulation. Biochim Biophys Acta. 1996;1275: 161-203.
2. Ponka P, Beaumont C, Richardson DR. Function and regulation of transferrin and ferritin. Semin Hematol. 1998;35:35-54.
3. Torti SV, Torti FM. Iron and ferritin in inflammation and cancer. Adv Inorg Biochem. 1994;10:119-137.
4. Hentze MW, Kuhn LC. Molecular control of vertebrate iron metabolism: mRNA-based regulatory circuits operated by iron, nitric oxide, and oxidative stress. Proc Natl Acad Sci U S A. 1996;93: 8175-8182.
5. Beaumont C, Girelli D. Hereditary hyperferritinemia cataract syndrome. In: Templeton DM, eds. Molecular and Cellular Iron Transfer. Basel, Switzerland: Marcel Dekker; 2002:761-774.
6. Beaumont C, Leneuve P, Devaux I, et al. Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinemia and cataract. Nat Genet. 1995;11:444-446.
7. Cazzola M, Bergamaschi G, Tonon L, et al. Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA. Blood. 1997;90:814-821.
8. Martin ME, Fargion S, Brissot P, Pellat B, Beaumont C. A point mutation in the bulge of the iron-responsive element of the L ferritin gene in two families with the hereditary hyperferritinemia-cataract syndrome. Blood. 1998;91:319-323.
9. Camaschella C, Zecchina G, Lockitch G, et al. A new mutation (G51C) in the iron-responsive element (IRE) of L-ferritin associated with cataract-cataract syndrome decreases the binding affinity of the mutated IRE for iron-regulatory proteins. Br J Haematol. 2000;108:480-482.
10. Girelli D, Corrocher R, Bisceglia L, et al. Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation"). Blood. 1995;86: 4050-4053.
11. Pietrangelo A, Montosi G, Totaro A, et al. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. N Engl J Med. 1999;341:725-732.
12. Wallace DF, Pedersen P, Dixon JL, et al. Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis. Blood. 2002; 100:692-694.
13. 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;100:695-697.
14. Cuthbert JA. Iron, HFE, and hemochromatosis update. J Investig Med. 1997;45:518-529.
15. 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;108:619-623.
16. Njajou OT, Vaessen N, Joosse M, et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet. 2001;28: 213-214.
17. Abboud S, Haile DJ. A novel mammalian iron-regulated protein involved in intracellular iron metabolism. J Biol Chem. 2000;275:19906-19912.
18. 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.
19. Hetet G, Elbaz A, Gariepy J, et al. Association studies between haemochromatosis gene mutations and the risk of cardiovascular diseases. Eur J Clin Invest. 2001;31:382-388.
20. Gochee PA, Powell LW, Cullen DJ, Du SD, Rossi E, Olynyk JK. A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation. Gastroenterology. 2002;122:646-651.
21. Ferreira C, Santambrogio P, Martin ME, et al. H ferritin knockout mice: a model of hyperferritinemia in the absence of iron overload. Blood. 2001; 98:525-532.
22. Donovan A, Brownlie A, Zhou Y, et al. Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter. Nature. 2000; 403:776-781.
23. Cazzola M, Skoda RC. Translational pathophysiology: a novel molecular mechanism of human disease. Blood. 2000;95:3280-3288.
24. Girelli D, Bozzini C, Zecchina G, et al. Clinical, biochemical and molecular findings in a series of families with hereditary cataract-cataract syndrome. Br J Haematol. 2001;115:334-340.
25. Roetto A, Merryweather-Clarke AT, Daraio F, et al. A valine deletion of ferroportin 1: a common mutation in hemochromatosis type 4. Blood. 2002; 100:733-734.
26. Cazzola M, Cremoriesi L, Papaioannou M, et al. Genetic hyperferritinemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3). Br J Haematol. 2002;119:539-546.
27. Burt MJ, George PM, Upton JD, et al. The significance of haemochromatosis gene mutations in the general population: implications for screening. Gut. 1998;43:830-836.
28. Brooks DG, Manova-Todorova K, Farmer J, et al. Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome. Invest Ophthalmol Vis Sci. 2002;43:1121-1126.
29. Mumford AD, Cree IA, Arnold JD, Hagan MC, Rixon KC, Harding JJ. The lens in hereditary hyperferritinemia cataract syndrome contains crystalline deposits of L-ferritin. Br J Ophthalmol. 2000;84:697-700.
30. Chang-Godinich A, Ades S, Schenkein D, Brooks D, Stambolian D, Raizman MB. Lens changes in hereditary hyperferritinemia-cataract syndrome. Am J Ophthalmol. 2001;132:786-788.
31. Feys J, Nodarian M, Aygalenq P, et al. Hereditary hyperferritinemia - cataract syndrome. J Fr Ophtalmol. 2001;24:847-850.
32. Arosio C, Fossati L, Vigano M, Trombini P, Cazzaniga G, Piperno A. Hereditary hyperferritinemia cataract syndrome: a de novo mutation in the iron responsive element of the L-ferritin gene. Haematologica. 1999;84:560-561.
33. Fielding Hejtmancik J. The genetics of cataract: our vision becomes clearer. Am J Hum Genet. 1998;62:520-525.
34. Herbert V, Jayatilleke E, Shaw S, et al. Serum ferritin iron, a new test, measures human body iron stores unconfounded by inflammation. Stem Cells. 1997;15:291-296.