Diagnostic strategies for autosomal dominant acute porphyrias: Retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene

Clinical Chemistry

Volumn 55, Issue 7, 2009, Pages 1406-1414

  Whatley, Sharon D ^a   Mason, Nicola G ^a   Woolf, Jacqueline R ^a   Newcombe, Robert G ^b   Elder, George H ^a   Badminton, Michael N ^a  

^a UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^b CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOLEVULINIC ACID; PORPHOBILINOGEN; PORPHOBILINOGEN DEAMINASE; PORPHYRIN;

ACUTE INTERMITTENT PORPHYRIA; ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CONTROLLED STUDY; COPROPORPHYRIA; CPOX GENE; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; DNA DETERMINATION; FECES; FLUOROSCOPY; GENE; GENE DELETION; GENE DOSAGE; GENE SEQUENCE; HMBS GENE; HUMAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POINT MUTATION; PORPHYRIA VARIEGATA; PPOX GENE; RELIABILITY; RETROSPECTIVE STUDY; SCHOOL CHILD; SENSITIVITY AND SPECIFICITY; STATISTICAL ANALYSIS;

ACUTE DISEASE; ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BASE SEQUENCE; CHILD; COPROPORPHYRINOGEN OXIDASE; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; GENES, DOMINANT; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; MIDDLE AGED; MUTATION; PORPHYRIAS; PROTOPORPHYRINOGEN OXIDASE; RETROSPECTIVE STUDIES; SENSITIVITY AND SPECIFICITY; YOUNG ADULT;

EID: 67650081282     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2008.122564     Document Type: Article

References (39)

1. Sassa S. Modern diagnosis and management of the porphyrias. Br J Haematol 2006;135:281-92.
2. Lamoril J, Puy H, Whatley SD, Martin C, Woolf JR, Da Silva V, et al. Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria. Am J Hum Genet 2001;68:1130-8.
3. Hrdinka M, Puy H, Martasek P. May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria: comparison with the situation in Slavic population. Physiol Res 2006;55(Suppl 2):S119-36.
4. Yrjönen A, Pischik E, Mehtälä S, Kauppinen R. A novel 19-bp deletion of exon 15 in the HMBS gene causing acute intermittent porphyria associating with rhabdomyolysis during an acute attack. Clin Genet 2008;74:396-8.
5. Yang CC, Kuo HC, You HL, Wang J, Huang CC, Liu CY, et al. HMBS mutations in Chinese patients with acute intermittent porphyria. Ann Hum Genet 2008;72:683-6.
6. Schneider-Yin X, Ulbrichova D, Mamet R, Martasek P, Marohnic CC, Goren A, et al. Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria. Mol Genet Metab 2008;94:343-6.
7. Rossetti MV, Granata BX, Giudice J, Parera VE, Battle A. Genetic and biochemical studies in Argentinean patients with variegate porphyria. BMC Med Genet 2008;9:54.
8. Gorman CS, Gill D, Darby C, Crowley V, Mahony MJ. Hereditary coproporphyria: report of an Irish kindred and identification of a novel gene mutation. Ir Med J 2008;101:125.
9. Meissner PN, Dailey TA, Hift RJ, Ziman M, Corrigall AV, Roberts AG, et al. A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. Nat Genet 1996;13:95-7.
10. Lee JS, Anvret M. 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 1991;88:10912-5.
11. Hift RJ, Meissner PN. An analysis of 112 acute porphyric attacks in Cape Town, South Africa. Medicine 2005;84:48-60.
12. Kauppinen R, von und zu Fraunberg M. Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families. Clin Chem 2000;48:1891-900.
13. Bonkovsky HL, Barnard GF. Diagnosis of porphyric syndromes: a practical approach in the era of molecular biology. Semin Liver Dis 1998;18:57-65.
14. De Rooij FWM, Edixhoven A, Wilson JHP. Porphyria: a diagnostic approach. In: Kadish KM, Smith KM, Guilard R, eds. The porphyrin handbook. Vol. 14. Amsterdam: Academic Press; 2003. p 211-46.
15. Thunell S, Harper P, Brock A, Petersen NE. Porphyrins, porphyrin metabolism and porphyrias. II. Diagnosis and monitoring in the acute porphyrias. Scand J Clin Lab Invest 2000;60:541-59.
16. Deacon AC, Whatley SD, Elder GH. Porphyrins and disorders of porphyrin metabolism. In: Burtis C, Ashwood, Bruns, eds. Tietz textbook of clinical chemistry and molecular diagnostics. 4th ed. St. Louis: Elsevier; 2005. p 1209-35.
17. Hift RJ, Davidson BP, van der Hooft C, Meissner DM, Meissner PN. Plasma fluorescence scanning and fecal porphyrin analysis for the diagnosis of variegate porphyria: precise determination of sensitivity and specificity with detection of protoporphyrinogen oxidase mutations as a reference standard. Clin Chem 2004;50:915-23.
18. Kauppinen R. Molecular diagnostics of acute intermittent porphyria Expert Rev Mol Diagn 2004;4:243-9.
19. Floderus Y, Sardh E, Möller C, Andersson C, Rejkjaer L, Andersson DE, Harper P. Variations in porphobilinogen and 5-aminolevulinic acid concentrations in plasma and urine from asymptomatic carriers of the acute intermittent porphyria gene with increased porphyrin precursor excretion. Clin Chem 2006;52:701-7.
20. Whatley SD, Roberts AG, Llewellyn DH, Bennett CP, Garrett C, Elder GH. Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene. Hum Genet 2000;107:243-8.
21. Whatley SD, Woolf JR, Elder GH. 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 25 novel mutations. Hum Genet 1999;104:505-10.
22. Whatley SD, Puy H, Morgan RR, Robreau AM, Roberts AG, Nordmann Y, et al. 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 1999;65:984-94.
23. Mauzerall D, Granick S. The occurrence and determination of delta-amino-levulinic acid and porphobilinogen in urine. J Biol Chem 1956;219:435-46.
24. Lockwood WH, Poulos V, Rossi E, Curnow DH. Rapid procedure for fecal porphyrin assay. Clin Chem 1985;31:1163-7.
25. Lim CK, Peters TJ. Urine and faecal porphyrin profiles by reversed-phase high-performance liquid chromatography in the porphyrias. Clin Chim Acta 1984;139:55-63.
26. Long C, Smyth SJ, Woolf J, Murphy GM, Finlay AY, Newcombe RG, Elder GH. Detection of latent variegate porphyria by fluorescence emission spectrometry of plasma. Br J Dermatol 1993;129:9-13.
27. Magnussen CR, Levine JB, Doherty JM, Cheesman JO, Tschudy DP. A red cell enzyme method for the diagnosis of acute intermittent porphyria. Blood 1974;44:857-68.
28. Whatley SD, Mason NG, Holme SA, Anstey AV, Elder GH, Badminton MN. Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria. J Invest Dermatol 2007;127:2790-4.
29. Wilson EB. Probable inference, the law of succession, and statistical inference. J Am Stat Assoc 1927;22:209-12.
30. Miettinen OS, Nurminen M. Comparative analysis of two rates. Stat Med 1985;4:213-26.
31. Kühnel A, Gross U, Jacob K, Doss MO. Studies on coproporphyrin isomers in urine and feces in the porphyrias. Clin Chim Acta 1999;282:45-58.
32. Blake D, McManus J, Cronin V, Ratnaike S. Fecal coproporphyrin isomers in hereditary coproporphyria. Clin Chem 1992;38:96-100.
33. Allen KR, Whatley SD, Degg TJ, Barth JH. Hereditary coproporphyria: comparison of molecular and biochemical investigations in a large family. J Inherit Metab Dis 2005;28:779-85.
34. Rossi E. Increased fecal porphyrins in acute intermittent porphyria. Clin Chem 1999;45:281-3.
35. Puy H, Deybach JC, Lamoril J, Robreau AM, Da Silva V, Gouya L, et al. Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria. Am J Hum Genet 1997;60:1373-83.
36. Di Pierro E, Besana V, Moriondo V, Brancaleoni V, Tavazzi D, Casalgrandi G, et al. A large deletion on chromosome 11 in acute intermittent porphyria. Blood Cells Mol Dis 2006;37:50-4.
37. Sen SK, Han K, Wang J, Lee J, Wang H, Callinan PA, et al. Human genomic deletions mediated by recombination between Alu elements. Am J Hum Genet 2006;79:41-53.
38. Eales L, Day RS, Blekkenhorst GH. The clinical and biochemical features of variegate porphyria: an analysis of 300 cases studied at Groote Schuur Hospital, Cape Town. Int J Biochem 1980;12:837-53.
39. Kostrwewska E, Gregor A. Increased activity of porphobilinogen deaminase in erythrocytes during acute attacks of acute intermittent porphyria. Ann Clin Res 1986;18:195-8.