High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda

Hepatology

Volumn 27, Issue 1, 1998, Pages 181-184

  Sampietro, M ^a   Piperno, A ^a   Lupica, L ^a   Arosio, C ^a   Vergani, A ^a   Corbetta, N ^a   Malosio, I ^a   Mattioli, M ^a   Fracanzani, A L ^a   Cappellini, M D ^a   Fiorelli, G ^a   Fargion, S ^a  

^a FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

UROPORPHYRINOGEN DECARBOXYLASE;

AMINO ACID SEQUENCE; ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; GENE MUTATION; HEMOCHROMATOSIS; HUMAN; IRON METABOLISM; ITALY; MAJOR CLINICAL STUDY; MALE; PORPHYRIA CUTANEA TARDA; PRIORITY JOURNAL;

EID: 0031982781     PISSN: 02709139     EISSN: None     Source Type: Journal    
DOI: 10.1002/hep.510270128     Document Type: Article

References (33)

1. 1 Kappas A, Sassa S, Galbraith RA, Nordmann Y. The porphyrias. In: Scriver CL, Beaudet AR, Sly VS, Valle D, eds. The Molecular and Metabolic Basis of Inherited Disease. New York: McGraw Hill. 1995 ; 2103–2159.
2. 2 De Verneuil H, Aitken G, Nordmann Y. Familial and sporadic porphyria cutanea tarda: two different diseases. Hum Genet 1978 ; 44: 145–151. MEDLINE
3. 3 Lefkowitch JK, Grossman ME. Hepatic pathology in porphyria cutanea tarda. Liver 1983 ; 3: 19–29. MEDLINE
4. 4 Lundvall O, Weinfeld A, Lundin P. Iron storage in porphyria cutanea tarda. Acta Med Scand 1970 ; 188: 37–53.
5. 5 Felsher BF, Kushner JP. Hepatic siderosis and porphyria cutanea tarda: relation of iron excess to the metabolic defect. Semin Hematol 1977 ; 14: 243–251. MEDLINE
6. 6 Fargion S, Piperno A, Cappellini MD, Sampietro M, Fracanzani AL, Romano R, Caldarelli R, et al. Hepatitis C virus and Porphyria Cutanea Tarda: evidence of a strong association. Hepatology 1992 ; 16: 1322–1326. MEDLINE
7. 7 Elder GH, Roberts AG. Uroporphyrinogen decarboxylase. J Biomembr Bioenerg 1995 ; 27: 207–214.
8. 8 Lundvall O. The effect of phlebotomy therapy in porphyria cutanea tarda. Acta Med Scand 1971 ; 189: 33–49. MEDLINE
9. 9 Adams PC, Powell LW. Porphyria cutanea tarda and HLA‐linked hemochromatosis ‐ all in the family? Gastroenterology 1987 ; 92: 2033–2035. MEDLINE
10. 10 Kuntz BME, Goerz G, Merk H, Strohmeyer G, Bruster HT. HLA‐A3 and B7 in porphyria cutanea tarda. Tissue Antiges 1984 ; 24: 67–69.
11. 11 Edwards CQ, Griffen LM, Kushner JP. Increased frequency of HLA‐A3 in subjects with sporadic porphyria cutanea tarda. Tissue Antiges 1988 ; 31: 250–251.
12. 12 Edwards CQ, Griffen LM, Goldgar DE, Skolnick MH, Kushner JP. HLA‐linked hemochromatosis alleles in sporadic porphyria cutanea tarda. Gastroenterology 1989 ; 97: 972–981. MEDLINE
13. 13 Fargion S, Fracanzani AL, Romano R, Cappellini MD, Faré M, Mattioli M, Piperno A, et al. Genetic hemochromatosis in Italian patients with porphyria cutanea tarda: possible explanation for iron overload. J Hepatol 1996 ; 24: 564–569. MEDLINE
14. 14 Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, et al. A novel MHC class I‐like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996 ; 13: 399–408. MEDLINE
15. 15 Beutler E, Gelbart T, West C, Lee P, Adams M, Blackstone R, Pockros P, et al. Mutation analysis in hereditary hemochromatosis. Blood Cells Mol Dis 1996 ; 22: 187–194. MEDLINE
16. 16 Jazwinska EC, Cullen LM, Busfield F, Pyper WR, Webb SI, Powell LW, Morris CP, et al. Haemochromatosis and HLA‐H. Nat Genet 1996 ; 14: 249–251. MEDLINE
17. 17 Jouanolle AM, Gandon G, Jézéquel P, Blayau M, Campion ML, Yaouanq J, Mosser J, et al. Haemochromatosis and HLA‐H. Nat Genet 1996 ; 14: 251–252. MEDLINE
18. 18 Roberts AG, Whatley SD, Morgan RR, Worwood M, Elder GH. Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. Lancet 1997 ; 349: 321–323. MEDLINE
19. 19 Carella M, D'Ambrosio L, Totaro A, Grifa A, Valentino MA, Piperno A, Girelli D, et al. Mutation analysis of the HLA‐H gene in Italian hemochromatosis patients. Am J Hum Genet 1997 ; 4: 828–832.
20. 20 Borot N, Roth MP, Malfroy L, Demangel C, Vinel JP, Pascal JP, Coppin H. Mutation in the MHC class I‐like candidate gene for hemochromatosis. Immunogenetics 1997 ; 45: 320–324. MEDLINE
21. 21 Herrero C, Vicente A, Bruguera M, Ercilla MG, Barrera JM, Vidal J, Teres J. Is Hepatitis C virus infection a trigger of porphyria cutanea tarda? Lancet 1993 ; 341: 788–789. MEDLINE
22. 22 Lacour JP, Bodokh I, Castanet J, Bekri S, Ortonne JP. Porphyria cutanea tarda and antibodies to hepatitis C virus. British Journal of Dermatology 1993 ; 128: 121–123. MEDLINE
23. 23 Murphy A, Dooley S, Hillary IB, Murpy GM. HCV infection in porphyria cutanea tarda. Lancet 1993 ; 341: 1534–1535. MEDLINE
24. 24 Stölzel U, Kostler E, Koszka C, Stoffler‐Meilicke M, Schuppan D, Somasundaram R, Doss M, et al. Low prevalence of hepatitis virus infection in Porphyria Cutanea Tarda in Germany. Hepatology 1995 ; 21: 1500–1503. MEDLINE
25. 25 Elder GH, Lee GB, Tovey JA. Decreased activity of hepatic uroporphyrinogen decarboxylase in sporadic porphyria cutanea tarda. N Engl J Med 1978 ; 299: 274–278. MEDLINE
26. 26 Barry M, Sherlock S. Measurement of liver iron concentration in needle biopsy specimens. Lancet 1971 ; 1: 100–103. MEDLINE
27. 27 Sampietro M, Salvadori S, Corbetta N, Badalamenti S, Graziani G, Fiorelli G. Single‐tube reverse transcription and heminested polymerase chain reaction of hepatitis C virus RNA to detect viremia in serologically negative hemodialysis patients. Int J Clin Lab Res 1995 ; 25: 52–54. MEDLINE
28. 28 Lo Y‐MD, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CWG, Wainscoat JS. Presence of fetal DNA in maternal plasma and serum. Lancet 1997 ; 350: 485–487. MEDLINE
29. 29 Camaschella C, Roetto A, Gasparini P, Piperno A, Fortina R, Surrey S, Rappaport E. Allelic association of microsatellites of 6p in Italian hemochromatosis patients. Hum Genet 1996 ; 97: 476–481. MEDLINE
30. 30 Piperno A, Arosio C, Fargion S, Roetto A, Nicoli C, Girelli D, Sbaiz L, et al. The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients. Hepatology 1996 ; 24: 43–46. MEDLINE
31. 31 Worwood M, Dorak MT, Nicklin S, Stone C, Pointon J, Darke C. The frequency of the haemochromatosis‐associated genotype D6S265‐1:D6S105‐8 in blood donors. Brit J Haematol 1996 ; 93: 838–840.
32. 32 Beutler E. Genetic irony beyond haemochromatosis: clinical effects of HLA‐H mutations. Lancet 1997 ; 349: 296–297. MEDLINE
33. 33 Crawford DH, Powell LW, Leggett BA, Francis JS, Fletcher LM, Webb SI, Halliday JW, et al. Evidence that the ancestral haplotype in Australian hemochromatosis patients may be associated with a common mutation in the gene. Am J Hum Genet 1995 ; 57: 362–367. MEDLINE