Four novel mutations in the ferrochelatase gene among erythropoietic protoporphyria patients

Journal of Investigative Dermatology

Volumn 106, Issue 2, 1996, Pages 346-350

  Henriksson, Matti ^a   Timonen, Kaisa ^a   Mustajoki, Pertti ^a   Pihlaja, Hannele ^a   Tenhunen, Raimo ^a   Peltonen, Leena ^b   Kauppinen, Raili ^a,c  

^a UNIVERSITY OF HELSINKI   (Finland)

^b NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^c HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

Porphyria

Indexed keywords

FERROCHELATASE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ERYTHROPOIETIC PROTOPORPHYRIA; FAMILIAL DISEASE; HUMAN; MUTATION; PRIORITY JOURNAL;

EID: 0029917327     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/1523-1747.ep12343020     Document Type: Article

References (34)

1. Bloomer JR, Phillips MJ, Davidson DL, Klatskin G, Bloomer Jr: Hepatic disease in erythropoietic protoporphyria. Am J Med 58:869-882, 1975
2. Brenner DA, Didier JM, Frasier F, Christensen SR, Evans GA, Dailey HA: A molecular detect in human protoporphyria. Am J Hum Genet 50:1203-1210, 1992
3. Chirwing JM, Przbyla AE, McDonald RJ. Rutter WJ: Isolation of biologically activated ribonucleic acid from sources enriched in ribonuclease. Biochemistry 18:5294-5299, 1979
4. Chou PY, Fasman GD: Empirical predictions of protein conformation. Annu Rev Biochem 47:251-276, 1978
5. Cooper DN: Human gene mutations affecting mRNA processing and translation. Ann Med 25:11-17, 1993
6. Donaldson EM, Donaldson AD, Rimington C: Erythropoietic protoporphyria: a family study. Br Med J 1:659-663, 1967
7. Hata A, Robertson M, Emi M, Lalouel JM: Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene. Nucleic Acids Res 18:5407-5411, 1990
8. Helminen P, Sajantila A, Johnsson V, Lukka M, Ehnholm C, Peltonen L: Amplification of three hypervariable DNA regions by polymerase chain reaction for paternity determinations: comparison with conventional methods and DNA fingerprinting. Mol Cell Probes 6:21-26, 1992
9. Higuchi R: Simple and rapid preparation of samples for PCR. In: Ehrlich H (ed.). PCR Technology. Principles and Applications for DNA Amplification. Stockton Press, New York, 1989, pp 31-38
10. Hopp TP, Woods KR: Prediction of protein antigenic determinants from amino acid sequences. Proc Natl Acad Sci U S A 78:3824-3828, 1981
11. Lamoril J, Boulechfar S, de Verneuil H, Grandchamp B, Nordmann Y, Deybach JC: Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene. Biochem Biophys Res Commun 181:594-599, 1991
12. Li F, Lim CK, Peters TJ: Analysis of urine and faecal porphyrins by HPLC coupled to an advanced automated sample processor. Biomed Chromatogr 1:93-94, 1986
13. Lynch PJ, Miedler LJ: Erythropoietic protoporphyria: report of a family and a clinical review. Arch Derm 92:351-356, 1965
14. Magness ST, Tugores A, Christensen SR, Wagner-Mcpherson C, Evans GA, Naylor EW, Brenner DA: Deletion of the ferrochelatase gene in a patient with protoporphyria. Hum Mol Genet 3:1695-1697, 1994
15. Magnus IA, Jarrett A, Prankerd TAJ, Rimington C: Erythropoietic porphyria. A new protoporphyria syndrome with solar urticaria due to protoporphyrinaemia. Lancet II:448-451, 1961
16. Mullis KB, Faloona FA: Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction. Methods Enzymol 155:335-350, 1987
17. Nakahashi Y, Taketani S, Okuda M, Inoue K, Tokunaga R: Molecular cloning and sequense analysis of cDNA encoding human ferrochelatase. Biochem Biophys Res Commun 173:748-755, 1990
18. Nakahashi Y, Fujita H, Taketani S, Ishida N, Kappas A, Sassa S: The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria. Proc Natl Acad Sci U S A 89:281-285, 1992
19. Nakahashi Y, Miyazaki H, Kadota Y, Naitoh Y, Inoue K, Yamamoto M, Hayashi N, Taketani S: Human erythropoietic protoporphyria: identification of a mutation at the splice donor site of intron 7 causing exon 7 skipping of the ferrochelatase gene. Hum Mol Gene 2:1069-1070, 1993a
20. Nakahashi Y, Miyazaki H, Kadota Y, Naitoh Y, Inoue K, Yamamoto M, Hayashi N, Taketani S: Molecular defect in human erythropoietic protoporphyria with fatal liver failure. Hum Genet 91:303-306, 1993b
21. Norris PG, Nunn AV, Hawk JLM, Cox TM: Genetic heterogeneity in erythropoietic protoporphyria: a study of the enzymatic defect in nine affected families. J Invest Dermatol 95:260-263, 1990
22. Pasaneu AVO, Salmi M, Vuopio P, Teuhunen R: Heme biosynthesis in sideroblastic anemia. Int J Biochem 12:969-970, 1982
23. Poh-Fitzpatrick MB: Erythropoietic protoporphyria. Int J Dermatol 17:339-369, 1978
24. Reed WB, Wuepper KD, Epstein JH, Redeker A, Simonson RJ, McKusick VA: Erythropoietic protoporphyria. A clinical and genetic study. JAMA 214:1060-1066, 1970
25. Sambrook J, Fritsch EF, Maniatis T: Molecular Cloning: A Laboratory Manual. Cold Spring Harbor Laboratory Press, New York, 1989
26. Sanger F, Nicklen S, Coulson AR: DNA sequencing with chain-terminating inhibitors. Proc. Natl Acad Sci U S A 74:5463-5467, 1977
27. Sarkany RP, Alexander GJ, Cox TM: Recessive inheritance of erythropoietic protoporphyria with liver failure. Lancet 343:1394-1396, 1994a
28. Sarkany RP, Whitcombe DM, Cox TM: Molecular characterization of a ferrochelatase gene defect causing anomalous RNA splicing in erythropoietic protoporphyria. J Invest Dermatol 102:481-484, 1994b
29. Schneider-Yin X, Schäfer BW, Möhr P, Burg G, Minder El: Molecular defects in erythropoietic protoporphyria with terminal liver failure. Hum Genet 93:711-713, 1994
30. Taketani S, Inazawa J, Nakahashi Y, Abe T, Tokunaga R: Structure of the human ferrochelatase gene. Eur J Biochem 205:217-222, 1992
31. Todd DJ, Hughes AE, Enuis KT, Ward AJ, Burrows D, Nevin NC: Identification of a single base pair deletion (40 del G) in exon I of the ferrochelatase gene in patients with erythropoietic protoporphyria. Hum Mol Genet 2:1495-1496, 1993
32. Wang X, Poh-Fitzpatrick M, Carriero D, Ostasiewicz I, Chen T, Taketani S, Piomelli S: A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing. Biochem Biophys Acta 1181:198-200, 1993
33. Went LN, Klasen EC: Genetic aspects of erythropoietic protoporphyria. Ann Hum Genet 48:105-117, 1984
34. Whitcombe DM, Albertson DG, Cox TM: Molecular analysis of functional and nonfunctional genes for human ferrochelatase: isolation and characterization of a FECH pseudogene and its sublocalization on chromosome 3. Genomics 20:482-486, 1994