Molecular heterogeneity of familial porphyria cutanea tarda in Spain: Characterization of 10 novel mutations in the UROD gene

British Journal of Dermatology

Volumn 157, Issue 3, 2007, Pages 501-507

  Mendez M ^a   Poblete Gutierrez P ^b   Garcia Bravo M ^a   Wiederholt, T ^c   Moran Jimenez M J ^a   Merk, H F ^c   Garrido Astray, M C ^a,d   Frank, J ^b   Fontanellas, A ^a,e   Enriquez De Salamanca R ^a  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^b MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^d UNIVERSIDAD EUROPEA DE MADRID   (Spain)

^e UNIVERSITY OF NAVARRA   (Spain)

Author keywords

Enzyme assay; Mutation analysis; Porphyria cutanea tarda; Prokaryotic expression; Uroporphyrinogen decarboxylase

Indexed keywords

ERYTHROCYTE ENZYME; UROPORPHYRINOGEN DECARBOXYLASE;

ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME STABILITY; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PORPHYRIA CUTANEA TARDA; PORPHYRIA CUTANEA TARDA TYPE 2; PRIORITY JOURNAL; PROKARYOTE; SKIN DISEASE; SPAIN; SPORADIC PORPHYRIA CUTANEA TARDA;

ADULT; AGED; COHORT STUDIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PORPHYRIA CUTANEA TARDA; RISK FACTORS; UROPORPHYRINOGEN DECARBOXYLASE;

EID: 34547873905     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2007.08064.x     Document Type: Article

References (41)

1. Anderson KE, Sassa S, Bishop DF, Desnick RJ. Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias. In : The Metabolic and Molecular Bases of Inherited Disease (Scriver CS, Beaudet AL, Sly WS, Valle D, eds 8th edn. New York : McGraw-Hill, 2001 2991 3062.
2. Fargion S, Piperno A, Cappellini M et al. Hepatitis virus and porphyria cutanea tarda: evidence of a strong association. Hepatology 1992 16 : 1322 6.
3. Elder GH. Porphyria cutanea tarda. Semin Liver Dis 1998 18 : 67 75.
4. Alla V, Bonkovsky HL. Iron in nonhemochromatotic liver disorders. Semin Liver Dis 2005 25 : 461 72.
5. de Verneuil H, Aitken G, Nordmann Y. Familial and sporadic porphyria cutanea: two different diseases. Hum Genet 1978 44 : 145 51.
6. Elder GH, Roberts AG, Enríquez de Salamanca R. Genetics and pathogenesis of human uroporphyrinogen decarboxylase defects. Clin Biochem 1989 22 : 163 8.
7. Dubart A, Mattei MG, Raich N et al. Assignment of human uroporphyrinogen decarboxylase (URO-D) to the p34 band of chromosome 1. Hum Genet 1986 73 : 277 9.
8. Romana M, Dubart A, Beaupain D et al. Structure of the gene for human uroporphyrinogen decarboxylase. Nucleic Acids Res 1987 15 : 7343 56.
9. Morán-Jiménez MJ, Ged C, Romana M et al. Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria. Am J Hum Genet 1996 58 : 712 21.
10. Romeo PH, Raich N, Dubart A et al. Molecular cloning and nucleotide sequence of a complete human uroporphyrinogen decarboxylase cDNA. J Biol Chem 1986 261 : 9825 31.
11. Whitby FG, Phillips JD, Kushner JP, Hill CP. Crystal structure of human uroporphyrinogen decarboxylase. EMBO J 1998 17 : 2463 71.
12. McManus JF, Begley CG, Sassa S, Ratnaike S. Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria. Blood 1996 88 : 3589 600.
13. McManus JF, Begley CG, Sassa S, Ratnaike S. Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda. Hum Mutat 1999 13 : 412.
14. Méndez M, Sorkin L, Rossetti MV et al. Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles. Am J Hum Genet 1998 63 : 1363 75.
15. Méndez M, Rossetti MV, De Siervi A et al. Mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyria. Hum Mutat 2000 16 : 269 70.
16. Christiansen L, Ged C, Hombrados I et al. Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT. Hum Mutat 1999 14 : 222 32.
17. Christiansen L, Bygum A, Jensen A et al. Uroporphyrinogen decarboxylase gene mutations in Danish patients with porphyria cutanea tarda. Scand J Clin Lab Invest 2000 60 : 611 15.
18. Brady JJ, Jackson HA, Roberts AG et al. Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda. J Invest Dermatol 2000 115 : 868 74.
19. Phillips JD, Parker TL, Schubert HL et al. Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase. Blood 2001 98 : 3179 85.
20. Cappellini MD, Martinez di Montemuros F, Tavazzi D et al. Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT). Hum Mutat 2001 17 : 350.
21. Martinez di Montemuros F, Di Pierro E, Patti E et al. Molecular characterization of porphyrias in Italy: a diagnostic flow-chart. Cell Mol Biol (Noisy-le-Grand) 2002 48 : 867 76.
22. Poblete-Gutiérrez P, Méndez M, Wiederholt T et al. The molecular basis of porphyria cutanea tarda in Chile: identification and functional characterization of mutations in the uroporphyrinogen decarboxylase gene. Exp Dermatol 2004 13 : 372 9.
23. de Verneuil H, Beaumont C, Deybach JC et al. Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria. Am J Hum Genet 1984 36 : 613 22.
24. Cruz-Rojo J, Fontanellas A, Morán-Jiménez MJ et al. Precipitating/aggravating factors of porphyria cutanea tarda in Spanish patients. Cell Mol Biol (Noisy-le-Grand) 2002 48 : 845 52.
25. Ganguly A, Rock MJ, Prockop DJ. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 1993 90 : 10325 9.
26. Cormack B. Mutagenesis by the polymerase chain reaction. In : Current Protocols in Molecular Biology (Ausubel FM, Brent R, Kingston RE et al., eds). Vol. 1. New York : John Wiley and Sons, Inc, 1991 8.5.1 9.
27. Roberts AG, Elder GH, Enríquez de Salamanca R et al. A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients. J Invest Dermatol 1995 104 : 500 2.
28. de Verneuil H, Grandchamp B, Beaumont C et al. Uroporphyrinogen decarboxylase structural mutant (Gly281→Glu) in a case of porphyria. Science 1986 234 : 732 4.
29. McManus J, Blake D, Ratnaike S. An assay of uroporphyrinogen decarboxylase in erythrocytes. Clin Chem 1988 34 : 2355 7.
30. D'Alessandro L, Griso D, Biolcati G et al. Incidence of hereditary porphyria cutanea tarda (PCT) in a sample of the Italian population. Arch Dermatol Res 1992 284 : 212 14.
31. Doss MO. Enzyme deficiency of erythrocytes in human porphyria. Gematol Transfuziol 1992 37 : 10 15.
32. Bulaj Z, Phillips J, Ajioka R et al. Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda. Blood 2000 95 : 1565 71.
33. Nordmann Y, Puy H. Human hereditary hepatic porphyrias. Clin Chim Acta 2002 325 : 17 37.
34. Tavazzi D, Martinez di Montemuros F, Fargion S et al. Levels of uroporphyrinogen decarboxylase (URO-D) in erythrocytes of Italian porphyria cutanea tarda patients. Cell Mol Biol (Noisy-le-Grand) 2002 48 : 27 32.
35. Méndez M, Rossetti MV, Batlle A, Parera V. The role of inherited and acquired factors in the development of porphyria cutanea tarda in the Argentinean population. J Am Acad Dermatol 2005 52 : 417 24.
36. Maquat LE. Defects in RNA splicing and the consequence of shortened translational reading frames. Am J Hum Genet 1996 59 : 279 86.
37. Hentze MW, Kulozik AE. A perfect message: RNA surveillance and nonsense-mediated decay. Cell 1999 96 : 307 10.
38. Lykke-Andersen J. mRNA quality control: marking the message for life or death. Curr Biol 2001 11 : R88 91.
39. Maquat LE. Nonsense-mediated mRNA decay in mammals. J Cell Sci 2005 118 : 1773 6.
40. Phillips JD, Whitby FG, Kushner JP, Hill CP. Structural basis for tetrapyrrole coordination by uroporphyrinogen decarboxylase. EMBO J 2003 22 : 6225 33.
41. de Verneuil H, Hansen J, Picat C et al. Prevalence of the 281 (Gly→Glu) mutation in hepatoerythropoietic porphyria and porphyria cutanea tarda. Hum Genet 1988 78 : 101 2.