Influence of Age and Gender on the Clinical Expression of Acute Intermittent Porphyria Based on Molecular Study of Porphobilinogen Deaminase Gene among Swiss Patients

Molecular Medicine

Volumn 7, Issue 8, 2001, Pages 535-542

  Schuurmans, Macé M ^a   Schneider Yin, Xiaoye ^b   Rüfenacht, Urszula B ^b   Schnyder, Cécile ^b   Minder, Christoph E ^c   Puy, Hervé ^d   Deybach, Jean Charles ^d   Minder, Elisabeth I ^b  

^a UNIVERSITY HOSPITAL BASEL   (Switzerland)

^b TRIEMLI HOSPITAL   (Switzerland)

^c UNIVERSITY OF BERN   (Switzerland)

^d HÔPITAL LOUIS MOURIER   (France)

Author keywords

[No Author keywords available]

Indexed keywords

PORPHOBILINOGEN DEAMINASE;

ACUTE INTERMITTENT PORPHYRIA; ADOLESCENT; ADULT; AGED; AGING; ARTICLE; CHILD; DIAGNOSTIC PROCEDURE; ENZYMOLOGY; FEMALE; GENETICS; HETEROZYGOTE; HUMAN; INFANT; MALE; METABOLISM; MIDDLE AGED; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PEDIGREE; PRESCHOOL CHILD; RISK ASSESSMENT; SEXUAL DEVELOPMENT; SWITZERLAND;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AGING; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MOLECULAR DIAGNOSTIC TECHNIQUES; PEDIGREE; PORPHYRIA, ACUTE INTERMITTENT; RISK ASSESSMENT; SEX CHARACTERISTICS; SWITZERLAND;

EID: 0035434324     PISSN: 10761551     EISSN: None     Source Type: Journal    
DOI: 10.1007/bf03401859     Document Type: Article

References (26)

1. Kappas A, Sassa S, Galbraith RA, Nordmann Y. (1995) The porphyrias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. Metabolic and molecular basis of inherited disease, 7th ed. New York: McGraw-Hill; pp. 2103-2160.
2. Kauppinen R, Mustajoki P. (1992) Prognosis of acute porphyria: Occurrence of acute attacks, precipitating factors, and associated diseases. Medicine 71: 1-13.
3. Grandchamp B. (1998) Acute intermittent porphyria. Semin. Liver Dis. 18: 17-24.
4. Grandchamp B, Romeo PH, Dubart A, et al. (1984) Molecular cloning of a cDNA sequence complementary to porphobilinogen deaminase mRNA from rat. Proc. Natl. Acad. Sci. U.S.A. 81: 5036-5040.
5. Raich N, Romeo PH, Dubart A, Beaupain D, Cohen-Solal M, Goossens M. (1986) Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase. Nucleic Acids Res. 14: 5955-5968.
6. Puy H, Deybach JC, Lamoril J, et al. (1997) Molecular epidemiology and diagnosis of PEG deaminase gene defects in acute intermittent porphyria. Am. J. Hum. Genet. 60: 1373- 1383
7. Gu X, de Rooij F, Lee J, et al. (1993) High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria. Hum. Genet. 91: 128-130.
8. Lee J, Anvret M. (1991) Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria. Proc. Natl. Acad. Sci. U.S.A. 88: 10912-10915.
9. Greene-Davis S, Neumann P, Mann E, et al. (1997) Detection of a R173W mutation in the porphobilinogen deaminase gene in the Nova Scotian "foreign Protestant" population with: a founder effect. Clin. Biochem 30: 607-612.
10. Schneider-Yin X, Bogard C, Rüfenacht U, et al. (2000) Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyria Hum. Hered. 50: 247-250.
11. Strand L, Meyer U, Felsher B. (1972) Decreased red cell uroporphyrinogen I synthase activity in acute intermittent porphyria. J. Clin. Invest. 51: 2530-2535.
12. Mauzerall D, Granick S. (1956) The occurrence and determination of δ-aminolevulinic acid and porphobilinogen in urine. J. Biol. Chem. 219: 435-446
13. Stata Statistical Software. (2000) Available at: http://www. stata.com
14. Llewellyn DH, Whatley S, Elder G. (1993) Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase. Hum. Mol. Genet. 2: 1315-1316.
15. Delfau M, Picat C, De Rooij F, et al. (1990) Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria. J. Clin. Invest. 86: 1511-1516.
16. Chen C, Astrin K, Lee G, Anderson K, Desnick R. (1994) Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. J. Clin. Invest. 94: 1927-1937.
17. Brownlie P, Lambert R, Louie G, et al. (1994) The three- dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria. Protein Sci. 3: 1644-1650.
18. Okada Y, Streisinger G, Owen JE, Newton J, Tsugita A, Inouye M. (1972) Molecular basis of a mutational hot spot in the lysozyme gene of bacteriophage T4. Nature 236: 338- 341.
19. Namba H, Narahara K, Tsuji K, Yokoyama Y, Seino Y. (1991) Assignment of human PEG deaminase to 11q24.1-q24.2 by in situ hybridization and gene dosage studies. Cytogenet. Cell Genet. 57: 105-108.
20. Yoo H, Warner C, Chen C, Desnick R. (1993) Hydroxymethylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene. Genomics 15: 21-29.
21. Grandchamp B, de Verneuil H, Beaumont C, Chretien S, Walter O, Nordmann Y. (1987) Tissue-specific expression of porphobilinogen deaminase. Two isozymes from a single gene. Eur. J. Biochem. 162: 105-110.
22. Kauppinen R, Mustajoki S, Pihlaja H, Peltonen L, Mustajoki P. (1995) Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene. Hum. Mol Genet. 4: 215-222.
23. McColl K, Wallace A, Moore M, Thompson G, Goldberg A. (1982) Alternations in haem biosynthesis during the human menstrual cycle: studies in normal subjects and patients with latent and active acute intermittent porphyria. Clin. Sci. 62: 183-191.
24. Stein J, Tschudy D. (1970) Acute intermittent porphyria. Medicine 49: 1-16.
25. Siervi A, Rossetti M, Parera V, Mendez M, Varela L, Batlle A. (1999) Acute intermittent porphyria: biochemical and clinical analysis in the Argentinean population. Clin. Chim. Acta 288: 63-71.
26. Andersson C, Floderus Y, Wikberg A, Lithner F. (2000) The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study. Scand. J. Clin. Lab. Invest. 60: 633-638.