Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis

Blood

Volumn 103, Issue 11, 2004, Pages 4317-4321

  Lanzara, Carmela ^b   Roetto, Antonella ^b   Daraio, Filomena ^b   Rivard, Silvain ^b   Ficarella, Romina ^b   Simard, Hervey ^b   Cox, Timothy M ^b   Cazzola, Mario ^b   Piperno, Alberto ^b   Gimenez Roqueplo, Anne Paule ^b   Grammatico, Paola ^b   Volinia, Stefano ^b   Gasparini, Paolo ^b   Camaschella, Clara ^a  

^a UNIVERSITY OF TURIN   (Italy)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

HEMOJUVELIN; HEPCIDIN; PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHROMOSOME 1Q; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HEMOCHROMATOSIS; HETEROZYGOTE; HOMEOSTASIS; HOMOZYGOTE; HUMAN; HUMAN TISSUE; IRON METABOLISM; IRON OVERLOAD; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ORGAN INJURY; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN STRUCTURE; RECESSIVE INHERITANCE; REGULATORY MECHANISM; SEQUENCE ANALYSIS; STOP CODON; STRUCTURE ACTIVITY RELATION;

EID: 2542468736     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2004-01-0192     Document Type: Article

References (32)

1. Bomford A. Genetics of haemochromatosis. Lancet. 2002;360:1673-1681.
2. Britton RS, Fleming RE, Parkkila S, Waheed A, Sly WS, Bacon BR. Pathogenesis of hereditary hemochromatosis: genetics and beyond. Semin Gastrointest Dis. 2002;13:68-79.
3. Olynyk JK, Cullen DJ, Aquilia S, Rossi E, Summerville L, Powell LW. A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med. 1999;341:718-724.
4. Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T. Penetrance of 845GA (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet. 2002;359:211-218.
5. Beutler E. The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis. Blood. 2003;101:3347-3350.
6. Ajioka RS, Kushner JP. Clinical consequences of iron overload in hemochromatosis homozygotes. Blood. 2003;101:3351-3353.
7. Camaschella C, Roetto A, De Gobbi M. Juvenile hemochromatosis. Semin Hematol. 2002;39:242-248.
8. 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.
9. Camaschella C, Roetto A, Cali A, et al. The gene encoding transferrin receptor 2 is mutated in a new type of hemochromatosis mapping to 7q22. Nat Genet. 2000;25;14-15.
10. De Gobbi M, Roetto A, Piperno A, et al. Natural history of juvenile haemochromatosis. Br J Haematol. 2002;117:973-979.
11. Roetto A, Totaro A, Cazzola M, et al. The juvenile hemochromatosis locus maps to chromosome 1q. Am J Hum Genet. 1999;64:1388-1393.
12. Papanikolaou G, Politou M, Roetto A, et al. Linkage to chromosome 1q in Greek families with juvenile hemochromatosis. Blood Cells Mol Dis. 2001;27:744-749.
13. Rivard SR, Lanzara C, Grimard D, et al. Juvenile hemochromatosis locus maps to chromosome 1q in a French-Canadian population. Eur J Hum Genet. 2003;11:585-589.
14. Papanikolaou G, Samuels ME, Ludwig EH, et al. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet. 2004;36:77-82.
15. Roetto A, Papanikolaou G, Politou M, et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet. 2003;33:21-22.
16. Roetto A, Daraio F, Porporato P, et al. Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R). Blood. 2004;103:2407-2409.
17. Nicolas G, Bennoun M, Devaoux I, et al. Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice. Proc Natl Acad Sci U S A. 2000;98:8780-8785.
18. Nicolas G, Bennoun M, Porteu A, et al. Severe iron deficiency anemia in transgenic mice expressing liver hepcidin. Proc Natl Acad Sci U S A. 2002;99:4596-4601.
19. Pigeon C, Ilvyn G, Courselaud B, et al. A new mouse-liver specific gene encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload. J Biol Chem. 2001;276:7811-7819.
20. Ganz T. Hepcidin, a key regulator of iron metabolism and mediator of anemia of inflammation. Blood. 2003;102:783-788.
21. Rivard SR, Mura C, Simard H, et al. Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, Canada). Blood Cells Mol Dis. 2000;26:10-14.
22. Roetto A, Alberti F, Daraio F, et al. Exclusion of ZIRTL as candidate gene of juvenile hemochromatosis and refinement of the critical interval on 1q21. Blood Cells Mol Dis. 2000;26:205-210.
23. Durand E, Grinda JM, Bruneval P. Cardiogenic shock in a young woman revealing juvenile haemochromatosis. Heart. 2003;89:870.
24. Matthes T, Aguilar-Martinez P, Bosman-Pizzi L, et al. Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5′ UTR of the hepcidin gene (abstract). Blood. 2003;102(suppl):2786a.
25. Bridle KR, Frazer DM, Wilkins SJ, et al. Disrupted hepcidin regulation in HFE-associated hemochromatosis and the liver as a regulator of body iron homeostasis. Lancet. 2003;361:669-673.
26. Gehrke SG, Kulaksiz H, Herrmann T, et al. Expression of hepcidin in hereditary hemochromatosis: evidence for a regulation in response to the serum transferrin saturation and to non-transferrin-bound iron. Blood. 2003;102:371-376.
27. Ahmad KA, Ahmann JR, Migas MC, et al. Decreased liver hepcidin expression in the Hfe knockout mouse. Blood Cells Mol Dis. 2002;29:361-366.
28. Muckenthaler M, Roy CN, Custodio AO, et al. Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis. Nat Genet. 2003;34:102-107.
29. Nicolas G, Andrews NC, Kahn A, Vaulont S. Hepcidin, a candidate modifier of the hemochromatosis phenotype in mice. Blood. Prepublished on December 4, 2003, as DOI 10.1182Jblood-2003-09-3358.
30. Merryweather-Clarke AT, Cadet E, Bomford A, et al. Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. Hum Mol Genet. 2003;12:2241-2247.
31. Biasiotto G, Belloli S, Ruggeri G, et al. Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload. Clin Chem. 2003;49:1981-1988.
32. Jacolot S, Le Gac G, Scotet V, Quere I, Mura C, Ferec C. Hamp as a modifier gene that increase the phenotypic expression of the HFE p. C282Y homozygous genotype. Blood. Prepublished on December 11, 2003, as DOI 10.1182/blood-2003-10-3366.