Variegate porphyria in western Europe: Identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation

American Journal of Human Genetics

Volumn 65, Issue 4, 1999, Pages 984-994

  Whatley, Sharon D ^a   Puy, Hervé ^b   Morgan, Rhian R ^a   Robreau, Anne Marie ^b   Roberts, Andrew G ^a   Nordmann, Yves ^b   Elder, George H ^a   Deybach, Jean Charles ^b  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

PROTOPORPHYRINOGEN OXIDASE;

ALLELISM; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL FEATURE; DNA SEQUENCE; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PORPHYRIA VARIEGATA; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; WESTERN EUROPE;

EID: 0033361412     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302586     Document Type: Article

References (48)

1. Armas R, Wolffe C, Krause P, Chana P, Parraguez A, Soto J (1992) The hepatic porphyrias: experience with 105 cases (in Spanish). Rev Med Chil 120:259-266
2. Brenner DA, Bloomer JR (1980) The enzymatic defect in variegate porphyria. N Engl J Med 302:765-769
3. Cooper DN, Krawczak M (1993) Human gene mutation. BIOS Scientific, Oxford
4. Corrigall AV, Hift RJ, Hancock V, Meissner D, Davids L, Kirsch RE, Meissner PN (1998) Identification and characterisation of a deletion (537delAT) in the protoporphyrinogen oxidase gene in a South African variegate porphyria family. Hum Mutat 12:403-407
5. Culbertson MR (1999) RNA surveillance: unforeseen consequences for gene expression, inherited genetic disorders and cancer. Trends Genet 15:74-80
6. Dailey TA, Dailey HA (1996) Human protoporphyrinogen oxidase: expression, purification, and characterization of the cloned enzyme. Protein Sci 5:98-105
7. _ (1998) Identification of an FAD superfamily containing protoporphyrinogen oxidases, monoamine oxidases and phytoene desaturase: expression and characterization of phytoene desaturase of Myxococcus xanthus. J Biol Chem 273:13658-13662
8. Da Silva V, Simonin S, Deybach J-C, Puy H, Nordmann Y (1995) Variegate porphyria: diagnostic value of fluorometric scanning of plasma porphyrins. Clin Chim Acta 238:163-168
9. Dean G (1971) The porphyrias: a story of inheritance and environment, 2d ed. Pitman Medical, London
10. De Rooij FWM, Minderman G, De Baar E, Wilson JHP, Sinke JRJ, Ploos van Amstel JK, TeVelde K (1997) Six new protoporphyrinogen oxidase mutations in Dutch variegate porphyria patients and the R59W mutation in historical perspective. Acta Haematol 98 Suppl 1:103
11. Deybach J-C, da Silva V, Grandchamp B, Nordmann Y (1985) The mitochondrial location of protoporphyrinogen oxidase. Eur J Biochem 149:431-435
12. Deybach J-C, Puy H, Robreau AM, Lamoril J, Da Silva V, Grandchamp B, Nordmann Y (1996) Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria. Hum Mol Genet 5:407-410
13. Eales L, Day RS, Blekkenhorst GH (1980) The clinical and biochemical features of variegate porphyria: an analysis of 300 cases studied at Groote Schuur Hospital, Cape Town. Int J Biochem 12:837-853
14. Elder GH, Hift RJ, Meissner PN (1997) The acute porphyrias. Lancet 349:1613-1617
15. Frank J, Christiano AM (1997) Genetic research strategies: a review of the acute porphyrias. Retinoids 13:88-92
16. Frank J, Jugert FK, Kalka K, Goerz G, Merk HF, Christiano AM (1998a) Variegate porphyria: identification of a nonsense mutation in the protoporphyrinogen oxidase gene. J Invest Dermatol 110:449-451
17. Frank J, Jugert FK, Breitkopf C, Goerz G, Merk HF, Christiano AM (1998b) Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria. Am J Med Genet 79:22-26
18. Frank J, Jugert FK, Kalka K, Goerz G, Merk HF, Christiano AM (1997a) Premature termination codons in the protoporphyrinogen oxidase gene underlie variegate porphyria. Acta Haematol 98 Suppl 1:97
19. Frank J, Lam H, Zaider E, Poh-Fitzpatrick M, Christiano AM (1998c) The genetic basis of "Scarsdale gourmet diet" variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene. Arch Dermatol Res 290:441-445
20. Frank J, Lam H, Zaider E, Poh-Fitzpatrick M, Christiano AM (1998d) Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene. J Med Genet 35:244-247
21. Frank J, McGrath J, Lam H, Graham RM, Hawk JL, Christiano AM (1998e) Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband. J Invest Dermatol 110:452-455
22. Frank J, Zaider E, Jugert FK, Goerz G, Merk HF, Poh-Fitz-Patrick M, Christiano AM (1997b) Variegate porphyria: identification of three novel missense mutations in the protoporphyrinogen oxidase gene. Acta Haematol 98 Suppl 1:96
23. Groenewald JZ, Liebenberg J, Groenewald IM, Warnich L (1998) Linkage disequilibrium analysis in a recently founded population: evaluation of the variegate porphyria founder in South African Afrikaners. Am J Hum Genet 62:1254-1258
24. Jenkins T (1996) The South African malady. Nat Genet 13:7-9
25. Kauppinen R, Timonen K, Laitinen E, Kuusisto K, Ahola H, Tenhunen R, Mustajoki P (1997) Molecular genetics and clinical characteristics of variegate porphyria. Acta Haematol 98 Suppl 1:96
26. Kirsch RE, Meissner PN, Hift RJ (1998) Variegate porphyria. Sem Liver Dis 18:33-41
27. Kotze MJ, De Villiers JN, Groenewald JZ, Rooney RN, Loubser O, Thiart R, Oosthuizen CJ, et al (1998) Molecular analysis reveals a high mutation frequency in the first untranslated exon of the PPOX gene and largely excludes variegate porphyria in a subset of clinically affected Afrikaner families. Mol Cell Probes 12:293-300
28. Lam H, Dragan L, Tsou HC, Merk H, Peacocke M, Goerz G, Sassa S, et al (1996) Molecular basis of variegate porphyria: frameshift mutations in the protoporphyrinogen oxidase gene. J Invest Dermatol 107:144
29. Lam H, Dragan L, Tsou HC, Merk H, Peacocke M, Goerz G, Sassa S, et al (1997) Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene. Hum Genet 99:126-129
30. Lerman LS, Silverstein K (1987) Computational simulation of DNA melting and its application to denaturing gel electrophoresis. Methods Enzymol 155:482-501
31. Long C, Smyth SJ, Woolf J, Murphy GM, Finlay AY, New-combe RG, Elder GH (1993) Detection of latent variegate porphyria by fluorescence emission spectroscopy of plasma. Br J Dermatol 129:9-13
32. Meissner PN, Dailey TA, Hift RJ, Ziman M, Corrigall AV, Roberts AG, Meissner D, et al (1996) A R59W mutation in protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. Nat Genet 13:95-97
33. Mustajoki P (1980) Variegate porphyria. Q J Med 49:191-203
34. Myers RM, Mamatis T, Lerman LS (1987) Detection and localization of single base changes by denaturing gradient gel electrophoresis. Methods Enzymol 155:501-527
35. Nishimura K, Taketani S, Inokuchi H (1995) Cloning of a cDNA for protoporphyrinogen oxidase by complementation in vivo of a hemG mutant of Escherichia coli. J Biol Chem 270:8076-8080
36. O'Donovan MC, Oefner PH, Roberts SC, Austin J, Hoogen-doorn B, Guy C, Speight G, et al (1998) Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection. Genomics 52:44-49
37. Poh-Fitzpatrick MB (1980) A plasma porphyrin fluorescence marker for variegate porphyria. Arch Dermatol 116:543-547
38. Puy H, Deybach J-C, Lamoril J, Robreau AM, Da Silva V, Gouya L, Grandchamp B, et al (1997) Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria. Am J Hum Genet 60:1373-1383
39. Puy H, Robreau AM, Rosipal R, Nordmann Y, Deybach JC (1996) Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene. Biochem Biophys Res Commun 226:227-230
40. Roberts AG, Puy H, Dailey TA, Morgan RR, Whatley SD, Dailey HA, Martasek P, et al (1998) Molecular characterization of homozygous variegate porphyria. Hum Mol Genet 7:1921-1925
41. Roberts AG, Whatley SD, Daniels J, Holmans P, Fenton J, Owen MJ, Thomson P, et al (1995) Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23. Hum Mol Genet 4:2387-2390
42. Rosipal R, Lamoril J, Puy H, Da Silva V, Gouya L, De Rooij FWM, Te Velde K, et al (1999) Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update. Hum Mutat 13:44-53
43. Taketani S, Inazawa J, Abe T, Furukawa T, Kohno H, Tokunaga R, Nishimura K, et al (1995) The human protoporphyrinogen oxidase gene (PPOX): organization and location to chromosome 1. Genomics 29:698-703
44. Tchernitchko D, Lamoril J, Puy H, Robreau AM, Bogard C, Rosipal R, Gouya L, et al (1999) Evaluation of mutation screening by heteroduplex analysis in acute intermittent porphyria: comparison with denaturing gradient gel electrophoresis. Clin Chim Acta 279:133-143
45. Thompson JD, Higgins DG, Gibson TJ (1994) Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position- specific gap penalties and weight matrix choice. Nucleic Acids Res 22:4673-4680
46. Tian H, Yu L, Mather MW, Yu CA (1998) Flexibility of the neck region of the rieske iron-sulfur protein is functionally important in the cytochrome bc1 complex. J Biol Chem 273:27953-27959
47. Warnich L, Kotze MJ, Groenewald IM, Groenewald JZ, van Brakel MG, van Heerden CJ, de Villiers JN, et al (1996) Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria. Hum Mol Genet 3:981-984
48. Whatley SD, Woolf JR, Elder GH (1999) Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of twenty-five novel mutations. Hum Genet 104:505-510