Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene

Gastroenterology - Tập 122 - Trang 1295-1302 - 2002
Domenico Girelli1, Claudia Bozzini1, Antonella Roetto2, Federica Alberti2, Filomena Daraio2, Romano Colombari3, Oliviero Olivieri1, Roberto Corrocher1, Clara Camaschella2
1Department of Clinical and Experimental Medicine, University of Verona, Verona
2Department of Clinical and Biological Sciences, University of Turin, Turin
3Service of Histopathology, Arzignano City Hospital, Arzignano, Italy

Tài liệu tham khảo

Bacon, 1999, Molecular medicine and hemochromatosis: at the crossroads, Gastroenterology, 116, 193, 10.1016/S0016-5085(99)70244-1 Andrews, 1999, Disorders of iron metabolism, N Engl J Med, 341, 1986, 10.1056/NEJM199912233412607 Feder, 1996, A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis, Nat Genet, 13, 399, 10.1038/ng0896-399 Lebron, 1998, Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor, Cell, 93, 111, 10.1016/S0092-8674(00)81151-4 Bennet, 2000, Crystal structure of the hereditary hemochromatosis protein HFE complexed with transferrin receptor, Nature, 403, 46, 10.1038/47417 Beutler, 1997, Genetic iron beyond haemochromatosis: clinical effects of HLA-H mutations, Lancet, 349, 296, 10.1016/S0140-6736(97)22005-2 Barton, 1999, 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, 25, 147, 10.1006/bcmd.1999.0240 Wallace, 1999, A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote, Gastroenterology, 116, 1409, 10.1016/S0016-5085(99)70505-6 Piperno, 2000, Two novel nonsense mutations of HFE gene in five unrelated Italian patients with hemochromatosis, Gastroenterology, 119, 441, 10.1053/gast.2000.9369 Waheed, 1999, Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum, Proc Natl Acad Sci U S A, 96, 1579, 10.1073/pnas.96.4.1579 Cazzola, 1983, Juvenile idiopathic haemochromatosis: a life-threatening disorder presenting as hypogonadotropic hypogonadism, Hum Genet, 65, 149, 10.1007/BF00286653 Camaschella, 1998, Juvenile hemochromatosis, Volume 12, 227 Roetto, 1999, The juvenile hemochromatosis locus maps to chromosome 1q, Am J Hum Genet, 64, 1388, 10.1086/302379 Piperno, 1998, Heterogeneity of hemochromatosis in Italy, Gastroenterology, 114, 996, 10.1016/S0016-5085(98)70319-1 Camaschella, 2000, The gene encoding transferrin receptor 2 is mutated in a new type of hemochromatosis mapping to 7q22, Nat Genet, 25, 14, 10.1038/75534 Montosi, 2001, Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene, J Clin Invest, 108, 619, 10.1172/JCI200113468 Njajou, 2001, A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis, Nat Genet, 28, 213, 10.1038/90038 McKie, 2000, A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation, Mol Cell, 5, 299, 10.1016/S1097-2765(00)80425-6 Donovan, 2000, Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter, Nature, 403, 776, 10.1038/35001596 Kawabata, 1999, Molecular cloning of transferrin receptor 2: a new member of the transferrin receptor-like family, J Biol Chem, 274, 20826, 10.1074/jbc.274.30.20826 Kawabata, 2000, Transferrin receptor 2-α supports cell growth both in iron-chelated cultured cells and in vivo, J Biol Chem, 275, 16618, 10.1074/jbc.M908846199 Kawabata, 2001, Regulation of expression of murine transferrin receptor 2, Blood, 98, 1949, 10.1182/blood.V98.6.1949 Fleming, 2000, Transferrin receptor 2: continued expression in mouse liver in the face of iron overload and hereditary hemochromatosis, Proc Natl Acad Sci U S A, 97, 2214, 10.1073/pnas.040548097 Roetto, 2001, New mutations inactivating transferrin receptor 2 in hemochromatosis type 3, Blood, 97, 2555, 10.1182/blood.V97.9.2555 Sambrook, 1989 Carella, 1997, Mutation analysis of the HLA-H gene in Italian hemochromatosis patients, Am J Hum Genet, 60, 828 Bosma, 1995, The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome, N Engl J Med, 333, 1171, 10.1056/NEJM199511023331802 Scheuer, 1962, Hepatic pathology in relatives of patients with hemochromatosis, J Pathol Bacteriol, 84, 53, 10.1002/path.1700840107 Guyader, 1998, Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis, Gastroenterology, 115, 929, 10.1016/S0016-5085(98)70265-3 Olynyk, 1999, A population-based study of the clinical expression of the hemochromatosis gene, N Engl J Med, 341, 718, 10.1056/NEJM199909023411002 Crawford, 1998, Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation, Gastroenterology, 114, 1003, 10.1016/S0016-5085(98)70320-8 Adams, 1998, Genotypic/phenotypic correlations in genetic hemochromatosis: evolution of diagnostic criteria, Gastroenterology, 114, 319, 10.1016/S0016-5085(98)70483-4 Piperno, 1998, Classification and diagnosis of iron overload, Haematologica, 83, 447 Gordeuk, 1992, Iron overload in Africa. Interaction between a gene and dietary iron content, N Engl J Med, 326, 95, 10.1056/NEJM199201093260204 De Gobbi, 2001, TFR2 Y250X mutation in Italy, Br J Haematol, 114, 241, 10.1046/j.1365-2141.2001.02873-3.x Barton, 2001, Transferrin receptor-2 (TFR2) mutation Y250X in Alabama Caucasian and African American subjects with and without primary iron overload, Blood Cells Mol Dis, 27, 279, 10.1006/bcmd.2001.0380 Glockner, 1998, Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the Epo and Cutl1 loci reveals 17 genes, Genome Res, 8, 1060, 10.1101/gr.8.10.1060 West, 2000, Comparison of the interactions of transferrin receptor and transferrin receptor 2 with transferrin and the hereditary hemochromatosis protein HFE, J Biol Chem, 275, 38135, 10.1074/jbc.C000664200 Griffiths WJH, Cox T. Transferrin receptor 2 interacts with HFE and is implicated in crypt cell iron signalling (abstr). Presented at BIOIRON 2001, Cairns, August 18–23, 2001, p O11.