A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria [1]

Journal of Investigative Dermatology

Volumn 116, Issue 5, 2001, Pages 821-823

  Frank, Jorge ^a   Jugert, Frank K ^a   Merk, Hans F ^a   Kalka, Katrin ^b   Goerz, Günter ^b   Anderson, Karl ^d   Bickers, David R ^c   Poh Fitzpatrick, Maureen B ^c   Christiano, Angela M ^c  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^b HEINRICH HEINE UNIVERSITY   (Germany)

^c Columbia University ^*  (United States)

^d NONE

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; OXIDOREDUCTASE; PORPHYRINOGEN;

ALLELISM; BLISTER; CLINICAL ARTICLE; CLINICAL FEATURE; DIAGNOSTIC VALUE; ENZYME DEFECT; FEMALE; FRAMESHIFT MUTATION; GEL ELECTROPHORESIS; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; LETTER; MALE; NEUROLOGIC DISEASE; NONSENSE MUTATION; PEDIGREE; PHENOTYPE; PHOTOSENSITIVITY DISORDER; PORPHYRIA VARIEGATA; PRIORITY JOURNAL;

EID: 0035014446     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2001.01308.x     Document Type: Article

References (31)

1. D.R. Bickers M.A. Pathak H.W. Lim The porphyrias T.B. Fitzpatrick A.Z. Eisen K. Wolff I.M. Freedberg K.F. Austen Dermatology in General Medicine 4th edn 1993 McGraw-Hill New York 1854 1893
2. A.V. Corrigall R.J. Hift V. Hancock D. Meissner L. Davids R.E. Kirsch P.N. Meissner Identification and characterisation of a deletion (537delAT) in the protoporphyrinogen oxidase gene in a South African variegate porphyria family Hum Mutat 12 1998 403 407
3. H.L. Crimlisk The little imitator-porphyria: a neuropsychiatric disorder J Neurol Neurosurg Psychiatry 62 1997 319 328
4. H.A. Dailey T.A. Dailey Characteristics of human protoporphyrinogen oxidase in controls and variegate porphyrias Cell Mol Biol 43 1997 67 73
5. J.C. Deybach H. Puy A.M. Robreau J. Lamoril V. Da Silva B. Grandchamp Y. Nordmann Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria Hum Mol Genet 5 1996 407 410 10.1093/hmg/5.3.407
6. J. Frank A.M. Christiano Genetic research strategies: a review of the acute porphyrias Retinoids 13 1997 88 92
7. J. Frank A.M. Christiano Variegate porphyria: past, present and future Skin Pharmacol Appl Skin Physiol 11 1998 310 320
8. J. Frank F.K. Jugert K. Kalka G. Goerz H.F. Merk A.M. Christiano Premature termination codons in the protoporphyrinogen oxidase gene underlie variegate porphyria Acta Haematol 98 Suppl. 1 1997 97
9. J. Frank H. Lam E. Zaider M. Poh-Fitzpatrick A.M. Christiano Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene J Med Genet 35 1998 244 247
10. J. Frank F.K. Jugert K. Kalka G. Goerz H.F. Merk A.M. Christiano Variegate porphyria: identification of a nonsense mutation in the protoporphyrinogen oxidase gene J Invest Dermatol 110 1998 449 451 10.1046/j.1523-1747.1998.00147.x
11. J. Frank J. McGrath H. Lam R.M. Graham J.L. Hawk A.M. Christiano Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband J Invest Dermatol 110 1998 452 455 10.1046/j.1523-1747.1998.00148.x
12. J. Frank F.K. Jugert C. Breitkopf G. Goerz H.F. Merk A.M. Christiano Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria Am J Med Genet 79 1998 22 26
13. J. Frank M.B. Poh-Fitzpatrick L.E. King Jr A.M. Christiano The genetic basis of ‘Scarsdale Gourmet Diet’ variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene Arch Dermatol Res 290 1998 441 445 10.1007/s004030050333
14. J. Frank J.A. McGrath M.B. Poh-Fitzpatrick J.L. Hawk A.M. Christiano Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria Clin Exp Dermatol 24 1999 296 301 10.1046/j.1365-2230.1999.00484.x
15. J. Frank J. Nelson X. Wang Erythropoietic protoporphyria: identification of novel mutations in the ferrochelatase gene and comparison of biochemical markers versus molecular analysis as diagnostic strategies J Invest Med 47 1999 278 284
16. J. Frank V.M. Aita W. Ahmad H. Lam C. Wolff A.M. Christiano Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from Chile Hum Hered 2000 in press
17. J.Z. Groenewald J. Liebenberg I.M. Groenewald L. Warnich Linkage disequilibrium analysis in a recently founded population: evaluation of the variegate porphyria founder in South African Afrikaners Am J Hum Genet 62 1998 1254 1258 10.1086/301833
18. R. Kauppinen P. Mustajoki Prognosis of acute porphyria. Occurrence of acute attacks, precipitating factors, and associated diseases Medicine 71 1992 1 13
19. R. Kauppinen K. Timonen E. Laitinen K. Kuusisto H. Ahola R. Tenhunen P. Mustajoki Molecular genetics and clinical characteristics of variegate porphyria Acta Haematol 98 Suppl. 1 1997 96
20. H. Lam L. Dragan H.C. Tsou Molecular basis of variegate porphyria: Frameshift mutations in the protoporphyrinogen oxidase gene J Invest Dermatol 107 1996 144
21. H. Lam L. Dragan H.C. Tsou Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene Hum Genet 99 1996 126 129 10.1007/s004390050325
22. G.Y. Lip K.E. McColl M.R. Moore The acute porphyrias Br J Clin Pract 47 1993 38 43
23. P.N. Meissner T.A. Dailey R.J. Hift A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria Nature Genet 13 1996 95 97
24. M.R. Moore R.J. Hift Drugs in the acute porphyrias: Toxicogenetic diseases Cell Mol Biol 43 1997 89 94
25. K. Nishimura S. Taketani H. Inokuchi Cloning of a human cDNA for protoporphyrinogen oxidase by complementation in vivo of a hem G mutant of Escherichia coli J Biol Chem 270 1995 8076 8080
26. A.G. Roberts H. Puy T.A. Dailey Molecular characterization of homozygous variegate porphyria Hum Mol Genet 7 1998 1921 1925 10.1093/hmg/7.12.1921
27. A.G. Roberts S.D. Whatley T.A. Dailey H.A. Dailey G.H. Elder Identification of a mutation in the protoporphyrinogen oxidase gene in homozygous variegate porphyria Hepatology 23 1996 I 94
28. F.W.M. deRooij G. Minderman E. de Baar J.H.P. Wilson R.J. Sinke J.K. Ploos van Amstel K. te Valde Six new protoporphyrinogen oxidase mutations in Dutch variegate porphyria patients and the R59W mutation in historical perspective Acta Haematol 98 Suppl. 1 1997 103
29. S. Taketani J. Inazawa T. Abe The human protoporphyrinogen oxidase gene (PPOX): Organization and location to chromosome 1 Genomics 29 1995 698 703 10.1006/geno.1995.9949
30. L. Warnich M.J. Kotze I.M. Groenewald Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria Hum Molec Genet 5 1996 981 984
31. S.D. Whatley H. Puy R.R. Morgan 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 Am J Hum Genet 65 1999 984 994 10.1086/302586