A previously undescribed nonsense mutation of the HFE gene

Clinical Genetics

Volumn 61, Issue 1, 2002, Pages 40-42

  Beutler, Ernest ^a   Griffin, M J ^b   Gelbart, T ^a   West, C ^a  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

^b Maine General Medical Center   (United States)

Author keywords

Ferritin; Heterozygote; Iron; Polymorphism

Indexed keywords

ADENINE; CYTOSINE; FERRITIN; GUANINE; HFE PROTEIN; THYMINE;

ADULT; AGED; ARTICLE; CASE REPORT; CONTROLLED STUDY; FERRITIN BLOOD LEVEL; GENE SEQUENCE; GENETIC CODE; GENETIC POLYMORPHISM; GENOTYPE PHENOTYPE CORRELATION; HEMOCHROMATOSIS; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; IRON METABOLISM; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POPULATION GENETICS; PRIORITY JOURNAL; SIBLING;

CODON, NONSENSE; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HLA ANTIGENS; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; POLYMORPHISM, GENETIC;

RAPHIA FRATER;

EID: 0036461322     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.610108.x     Document Type: Article

References (14)

1. Mohler DN, Wheby MS. Case Report. Hemochromatosis heterozygotes may have significant iron overload when they also have hereditary spherocytosis. Am J Medical Sci 1986: 29: 320-324.
2. Simon M, Alexandre JL, Bourel M et al. Heredity of idiopathic haemochromatosis: a study of 106 families. Clin Genet 1977: 11: 327-341
3. Beutler E, Felitti V, Gelbart T et al. The effect of HFE genotypes in patients attending a health appraisal clinic. Ann Intern Med 2000: 133: 329-337.
4. Feder JN, Gnirke A, Thomas W et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nature Genet 1996: 13: 399-408.
5. de Villiers JNP, Hillermann R, Loubser L et al. Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria. Hum Mol Genet 1999: 8: 1517-1522.
6. Mura C, Raguenes O, Ferec C. HFE mutations analysis in 711 hemochromatosis probands. Evidence for S65c implication mild form hemochromatosis. Blood 1999: 93: 2502-2505.
7. Henz S, Reicher J, Liechti-Galliati S. HLA-H gene mutations and haemochromatosis. The likely association of H63D with mild phenotype and the detection of S65C, a novel variant in exon 2. J Hepatol 1997: 26 (Suppl. 1): 57.
8. Simonsen K, Dissing J, Rudbeck L et al. Rapid and simple determination of hereditary haemochromatosis mutations by multiplex PCR-SSCP: detection a new polymorphic mutation. Ann Hum Genet 1999: 63: 193-197.
9. Barton JC, Sawada-Hirai R, Rothenberg BE et al. Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands. Blood Cells Mol Dis 1999: 25: 146-154.
10. Oberkanins C, De Moritz A, Villiers JNP et al. A reverse-hybridization assay for the rapid and simultaneous detection of nine HFE gene mutations. Genetic Testing 2000: 4: 121-124.
11. Piperno A, Arosio C, Fossati L et al. Two novel nonsense mutations of HFE gene in five unrelated Italian patients with hemochromatosis. Gastroenterology 2000: 119: 441-445.
12. Bradbury R, Fagan E, Payne SJ. Two novel polymorphisms (E277K and V212V) in the haemochromatosis gene HFE. Hum Mutat 2000: 15: 120.
13. Rosmorduc O, Poupon R, Nion I et al. Differential HFE allele expression in hemochromatosis heterozygotes. Gastroenterology 2000: 119: 1075-1086.
14. Wallace DF, Dooley JS, Walker AP. A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote. Gastroenterology 1999: 116: 1409-1412. f