Genetic abnormalities and juvenile hemochromatosis: Mutations of the HJV gene encoding hemojuvelin

Blood

Volumn 103, Issue 12, 2004, Pages 4669-4671

  Lee, Pauline L ^b   Beutler, Ernest ^a   Rao, Sreenivas V ^b   Barton, James C ^b  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

HEMOJUVELIN; PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CARDIOMYOPATHY; CLINICAL ARTICLE; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; HEMOCHROMATOSIS; HEMOSIDEROSIS; HFE2 GENE; HJV GENE; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; MALE; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 2942619988     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2004-01-0072     Document Type: Article

References (16)

1. Bezançon F, De Gennes L, Delarue J, Oumensky V. Cirrhose pigmentaire avec infantilisme, insuffisance cardiaque et aplasies endocriniennes multiples. Bull Mem Soc Med Hop Paris. 1932;48:967-974.
2. De Gobbi M, Roetto A, Piperno A, et al. Natural history of juvenile haemochromatosis. Br J Haematol. 2002;117:973-979.
3. Roetto A, Totaro A, Cazzola M, et al. Juvenile hemochromatosis locus maps to chromosome 1q. Am J Hum Genet. 1999;64:1388-1393.
4. Barton JC, Rao SV, Pereira NM, et al. Juvenile hemochromatosis in the Southeastern United States: a report of seven cases in two kinships. Blood Cells Mol Dis. 2002;29:104-115.
5. 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.
6. 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.
7. Roetto A, Papanikolaou G, Politou M, et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet. 2003;33:21-22.
8. 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.
9. Wain HM, Bruford EA, Lovering RC, Lush MJ, Wright MW, Povey S. Guidelines for human gene nomenclature. Genomics. 2002;79:464-470.
10. Felts JH, Nelson JR, Herndon CN, Spurr CL. Hemochromatosis in two young sisters. Case studies and a family survey. Ann Intern Med. 1967;67:117-123.
11. 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.
12. Lee PL, Gelbart T, West C, Halloran C, Felitti V, Beutler E. A study of genes that may modulate the expression of hereditary hemochromatosis: transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin. Blood Cells Mol Dis. 2001;27:783-802.
13. Kaltwasser JP. Juvenile hemochromatosis. In: Barton JC, Edwards CQ, eds. Hemochromatosis. Genetics, Pathophysiology, Diagnosis, and Treatment. New York: Cambridge University Press; 2000:318-325.
14. Lamon JM, Marynick SP, Roseblatt R, Donnelly S. Idiopathic hemochromatosis in a young female. A case study and review of the syndrome in young people. Gastroenterology. 1979;76:178-183.
15. Papanikolaou G, Papaioannou M, Politou M, et al. Genetic heterogeneity underlies juvenile hemochromatosis phenotype: analysis of three families of northern Greek origin. Blood Cells Mol Dis. 2002;29:168-173.
16. Groen J. The hereditary mechanism of Gaucher's disease. Blood. 1948;3:1238-1249.