Genetic defects in the porphyrias: Types and significance

Clinics in Dermatology

Volumn 16, Issue 2, 1998, Pages 225-233

  Elder, George H ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COPROPORPHYRIN; PORPHOBILINOGEN SYNTHASE; PORPHYRIN; UROPORPHYRINOGEN;

ACUTE INTERMITTENT PORPHYRIA; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL FEATURE; CONGENITAL ERYTHROPOIETIC PORPHYRIA; DISEASE CLASSIFICATION; ENZYME DEFICIENCY; GENE LOCATION; GENETIC COUNSELING; HUMAN; POINT MUTATION; PORPHYRIA; PORPHYRIA CUTANEA TARDA; PORPHYRIA VARIEGATA; PORPHYRIN METABOLISM; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW;

EID: 0032030887     PISSN: 0738081X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0738-081X(97)00202-2     Document Type: Article

References (73)

1. May BK, Dogra SC, Sadlon TJ, et al. Molecular regulation of heme biosynthesis in higher vertebrates. Prog Nucleic Acid Res and Mol Biol 1995;51:1-51.
2. Ponka P. Tissue-specific regulation of iron metabolism and heme synthesis: Distinct control mechanisms in erythroid cells. Blood 1997;89:l-25.
3. Bottomley SS, May BK, Cox TC, et al. Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia. J Bioenerg Biomembr 1995;27:161-8.
4. Lim HW, Cooper D, Sassa S, et al. Photosensitivity, abnormal porphyrin profile and sideroblastic anemia. J Am Acad Dermatol 1992;27:287-92.
5. Kappas A, Sassa S, Galbraith RA, et al. The porphyrias. In: Scriver CR, Beaudet AL, Sly WS, et al, editors. The metabolic basis of inherited disease, 7th ed. New York: McGraw-Hill, 1995:2103-59.
6. Kaya AH, Plewinska M, Wong DM, et al. Human 8-aminolevulinate dehydratase (ALAD) gene: Structure and alternative splicing of the erythroid and housekeeping mRNAs. Genomics 1994;19:242-8.
7. Chretien S, Dubart A, Beaupain D, et al. Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression. Proc Natl Acad Sei U S A 1988;85: 6-10.
8. Freeseman AG, Hofwebes K, Doss M. Co-existence of deficiency of uroporphyrinogen III synthase and decarboxylase in a patient with congenital erythropoietic porphyria and his family. Eur J Clin Chem Clin Biochem 1997;35:35-9.
9. Deybach JC, Puy H. Porphobilinogen deaminase gene structure and molecular defects. J Bioenerg Biomembr 1987;27:197-205.
10. Astrin KH, Desnick RJ. Molecular basis of acute intermittent porphyria: Mutations and polymorphisms in the human hydroxymethylbilane synthase gene. Hum Mutat 1994;4:243-353.
11. Mustajoki P, Desnick RJ. Genetic heterogeneity in acute intermittent porphyria: characterization and frequency of porphobilinogen deaminase mutations in Finland. BMJ 1985;291:505-9.
12. Puy H, Deybach JC, Lamoril J, et al. Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria. Am J Hum Genet 1997;60: 1373-83.
13. De Sjervi A, Glass JA, Rossetti MV, et al. Identification of nine new mutations and a common mutation in the hydroxymethylbilane synthase gene in patients with acute intermittent porphyria. Am J Hum Genet 1996; 59:A256.
14. Kauppinen R, Mustajoki S, Pihlaja H, et al. Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene. Hum Mol Genet 1995;4:215-22.
15. Lee JS, Anvret M. Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria. Proc Natl Acad Sei U S A 1991;88:10912-5.
16. Gu XK, de Rooij F, Lee JS, et al. High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria. Hum Genet 1993;91:128-30.
17. Whatley SD, Roberts AG, Elder GH. De-novo mutation and sporadic presentation of acute intermittent porphyria. Lancet 1995;346:1007-8.
18. Elder GH. Hepatic porphyrias in children. J Inherit Metab Dis 1997;20:237-46.
19. Louie GV, Browlie PD, Lambert R, et al. The three-dimensional structures of mutants of porphobilinogen deami-nase: A flexible multidomain polymerase with a single catalytic site. Nature 1992;359:33-9.
20. Browlie PD, Lambert R, Louie GV, et al. The threedimensional structures of mutants of porphobilinogen deaminase: Toward an understanding of the structural basis of acute intermittent porphyria. Protein Sei 1994; 3:1644-50.
21. Taketani S, Inazawa J, Abe T, et al. The human protoporphyrinogen oxidase gene (PPOX): Organization and location to chromosome 1. Genomics 1995;29:698-703.
22. Roberts AG, Whatley SD, Daniels J, et al. Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome Iq23. Hum Mol Genet 1995;4:2387-90.
23. Puy H, Robréau AM, Rosipal R, et al. Protoporphyrinogen oxidase: Complete genomic sequence and polymorphisms in the human gene. Biochem Biophys Res Commun 1996; 226:226-30.
24. Warnich L, Kotze MJ, Groenewald IM, et al. Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria. Hum Mol Genet 1996;5:981-4.
25. Meissner PN, Dailey TA, Hift RJ, et al. A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. Nat Genet 1996;95-7.
26. Kirsch RE, Meissner PN, Hift RJ. Variegate porphyria. Semin Liv Dis 1998;18:33-40.
27. Roberts AG, Whatley SD, Dailey T, et al. Molecular characterization of homozygous variegate porphyria. J Inherit Metab Dis 1996;19:(Suppl 1), 17.
28. Grandchamp B, Lamoril J, Puy H. Molecular abnormalities of coproporphyrinogen oxidase in patients with hereditary coproporphyria. J Bioenerg Biomembr 1995;27:215-20.
29. Schreiber WE, Zhang X, Jamani A. Frameshift and point mutations in the coproporphyrinogen oxidase gene cause hereditary coproporphyria. Clin Chem 1996;42:423.
30. Daimon M, Gojyon E, Sugawara M, et al. A novel missense mutation in exon 4 of the coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria. Hum Genet 1997;99:199-201.
31. Lamoril J, Deybach JC, Puy H, et al. Three novel mutations in the coproporphyrinogen oxidase gene. Hum Mutat 1997;9:78-80.
32. Sassa S, Kondo M, Taketani S, et al. Molecular defects of the coproporphyrinogen oxidase gene in hereditary coproporphyria. Cell Mol Biol (Noisy-le-grand) 1997;43: 59-66.
33. Went LN, Klasen EC. Genetic aspects of erythropoietic protoporphyria. Ann Hum Genet 1984;48:105-17.
34. Nordmann Y, Deybach J-C. Human hereditary porphyrias. In: Dailey HA, editor. Biosynthesis of heme and chlorophylls. New York: McGraw-Hill, 1990:491-542.
35. Norris PG, Nunn AV, John LM, et al. Genetic heterogeneity in erythropoietic protoporphyria: A study of the enzymatic defect in nine affected families. J Invest Dermatol 1990;95:260-3.
36. Goerz G, Bunselmeyer S, Bolsen K, et al. Ferrochelatase activities in patients with erythropoietic protoporphyria and their families. Br J Dermatol 1996;134:880-5.
37. Sarkany RPE, Alexander GJMA, Cox TM. Recessive inheritance of erythropoietic protoporphyria with liver failure. Lancet 1994;343:1394-6.
38. Taketani S, Fujita H. The ferrochelatase gene structure and molecular defects associated with erythropoietic protoporphyria. J Bioenerg Biomembr 1995;27:231-8.
39. Schneider-Yin X, Schäfer BW, Tönz O, et al. Human ferrochelatase: A novel mutation in patients with erythropoietic protoporphyria and an isoform caused by alternative splicing. Hum Genet 1995;95:391-6.
40. Whitcombe DM, Albertson DG, Cox TM. Molecular analysis of functional and non functional genes for human ferrochelatase: Isolation and characterisation of a FECH pseudogene and its sublocalisation on chromosome 3. Genomics 1994;20:482-6.
41. Lamoril J, Boulechfar S, De Verneuil H, et al. Human erythropoietic protoporphyria: Two point mutations in the ferrochelatase gene. Biochem Biophys Res Commun 1991;181:594-9.
42. Brenner DA, Didier JM, Frasier F, et al. A molecular defect in human protoporphyria. Am J Hum Genet 1992;50: 1203-10.
43. Nakahashi Y, Fujita H, Taketani S, et al. The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria. Proc Natl Acad Sei U S A 1992;89:281-5.
44. Nakahashi Y, Miyazaki H, Kadota Y, et al. Molecular defect in human erythropoietic protoporphyria with fatal liver failure. Hum Genet 1993;91:303-6.
45. Todd DJ, Hughes EA, Ennis KT, et al. Identification of a single base pair deletion (40 del b) in exon 1 of the ferrochelatase gene in patients with erythropoietic protoporphyria. Hum Mol Genet 1993;2:1495-6.
46. Magness St, Tugores A, Christensen SR, et al. Deletion of the ferrochelatase gene in a patient with protoporphyria. Hum Mol Genet 1994;3:1695-7.
47. Schneider-Yin X, Schäfer BW, Mohr P, et al. Molecular defects in erythropoietic protoporphyria with terminal liver failure. Hum Genet 1994;93:711-3.
48. Sarkany RPE, Whitcombe DM, Cox TM. Molecular characterization of a ferrochelatase gene defect causing anomalous RNA splicing in erythropoietic protoporphyria. J Invest Dermatol 1994;102:481-4.
49. Wang X, Poh-Fitpatrick M, Taketani S, et al. Screening for ferrochelatase mutations: Molecular heterogeneity of erythropoietic protoporphyria. Biochim Biophys Acta 1994;1225:187-90.
50. Gouya L, Deybach JC, Lamoril J, et al. Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele. Am J Hum Genet 1996;58:292-9.
51. Henriksson M, Timonen K, Mustajoki P, et al. Four novel mutations in the ferrochelatase gene among erythropoietic protoporphyria patients. J Invest Dermatol 1996;106: 346-50.
52. Imoto S, Tanizawa Y, Sato Y, et al. A novel mutation in the ferrochelatase gene associated with erythropoietic protoporphyria. Br J Haematol 1996;94:191-7.
53. Wang X. Molecular characterization of a novel defect occurring de novo associated with erythropoietic protoporphyria. Biochim Biophys Acta 1996;1316:149-52.
54. Wang X, Piomelli S, Peacocke M, et al. Erythropoietic protoporphyria: Four novel frameshift mutations in the ferrochelatase gene. J Invest Dermatol 1997;108:647.
55. Poh-Fitzpatrick M, Piomelli S, Deybach JC, et al. Erythropoietic protoporphyria: A triallelic inheritance model. J Invest Dermatol 1997;108:598.
56. Bloomer J, Bruzzone C, Zhu L, et al. Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantation. Hepatology 1996;24:199A.
57. Plewinska M, Thunell S, Holmberg L, et al. 8-Aminolevulinate dehydratase deficient porphyria: Identification of the molecular lesions in a severely affected homozygote. Am J Hum Genet 1991;49:167-74.
58. Ishida N, Fujita H, Fukuda Y, et al. Cloning and expression of the defective genes from a patient with 8-aminolevulinate dehydratase porphyria. J Clin Invest 1992;89: 1431-7.
59. Xu W, Warner CA, Deswick RJ. Congenital erythropoietic porphyria: Identification and expression of ten mutations in the uroporphyrinogen III synthase gene. J Clin Invest 1995;95:905-12.
60. Tanigawa K, Bensidhoum M, Takamura N, et al. A novel point mutation in congenital erythropoietic porphyria in two members of a Japanese family. Hum Genet 1996;97: 557-60.
61. Fontanellas A, Bensidhoum M, De Salamanca RE, et al. A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. Eur J Hum Genet 1996;4:274-82.
62. Romana M, Dubart A, Beaupain D, et al. Structure of the gene for human uroporphyrinogen decarboxylase. Nucleic Acids Res 1987;15:7343-56.
63. Elder GH. Porphyria cutanea tarda. Semin Liver Dis 1998; 18:67-75.
64. Garey JR, Hansen JL, Harrison LM, et al. A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda. Blood 1989;73:892-5.
65. McManus JF, Begley CG, Sassa S, et al. Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria. Blood 1996; 88:3586-3600.
66. Sorkin L, Mendez M, Rossetti MV, et al. Identification of six new mutations in the uroporphyrinogen decarboxylase gene causing familial porphyria cutanea tarda. Am J Hum Genet 1996;59:A285.
67. Moran-Jimenez MJ, Ged C, Romana M, et al. Uroporphyrinogen decarboxylase: Complete gene sequence and molecular study of three families with hepatoerythropoietic porphyria. Am J Hum Genet 1996;58:712-21.
68. Garey JR, Franklin KF, Brown DA, et al. Analysis of uroporphyrinogen decarboxylase complementary DNAs in sporadic porphyria cutanea tarda. Gastroenterology 1993;105:165-9.
69. Edwards CQ, Griffen LM, Goldgar DE, et al. HLA-linked hemochromatosis alleles in sporadic porphyria cutanea tarda. Gastroenterology 1989;97:972-81.
70. Roberts AG, Whatley SD, Morgan RR, et al. Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. Lancet 1997; 349:321-3.
71. Ged C, Moreau-Gaudry F, Taine L, et al. Prenatal diagnosis in congenital erythropoietic porphyria by metabolic measurement and DNA mutation analysis. Prenat Diagn 1996;16:83-6.
72. Lindberg RLP, Porcher C, Grandchamp B, et al. Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria. Nat Genet 1996;12:195-9.
73. Moreau-Gaudry F, Ged C, de Verneuil H. Gene therapy for erythropoietic porphyria. Gene Ther 1996;3:843-4.