92
Views
4
CrossRef citations to date
0
Altmetric
Proceedings of the 12th International Symposium on Purine and Pyrimidine Metabolism in Man (PP07)

Identification of Two Novel Mutations C79X and R235Q in the Dihydropyrimidine Dehydrogenase Gene in a Patient Presenting With Hematuria

, , , , , , , & show all
Pages 809-815 | Published online: 03 Jul 2008

REFERENCES

  • Fernandez-Salguero , P. M. , Sapone , A. , Wei , X. , Holt , J. R. , Jones , S. , Idle , J. R. and Gonzalez , F. J. 1997 . Lack of correlation between phenotype and genotype for the polymorphically expressed dihydropyrimidine dehydrogenase in a family of Pakistani origin . Pharmacogenetics , 7 : 161 – 163 .
  • van Kuilenburg , A. B. P. , Vreken , P. , Abeling , N. G. G. M. , Bakker , H. D. , Meinsma , J. R. , van Lenthe , H. , De Abreu , R. A. , Smeitink , J. A. M. , Kayserili , H. , Apak , M. Y. , Christensen , E. , Holopainen , I. , Pulkki , K. , Riva , D. , Botteon , G. , Holme , E. , Tulinius , M. , Kleijer , W. J. , Beemer , F. A. , Duran , M. , Niezen-Koning , K. E. , Smit , G. P. A. , Jakobs , C. , Smit , L. M. E. , Spaapen , L. J. M. and van Gennip , A. H. 1999 . Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency . Hum. Genet. , 104 : 1 – 9 .
  • van Kuilenburg , A. B. P. , Dobritzsch , D. , Meinsma , J. R. , Haasjes , J. , Waterham , H. R. , Nowaczyk , M. J. M. , Maropoulos , G. D. , Hein , G. , Kalhoff , H. , Kirk , J. M. , Baaske , H. , Aukett , A. , Duley , J. A. , Ward , K. P. , Lindqvist , Y. and van Gennip , A. H. 2002 . Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure . Biochem. J. , 364 : 157 – 163 .
  • Au , K. M. , Lai , C. K. , Yuen , Y. P. , Shek , C. C. , Lam , C. W. and Chan , A. Y. W. 2003 . Diagnosis of dihydropyrimidine dehydrogenase deficiency in a neonate with thymine-uraciluria . Hong. Kong. Med. J. , 9 : 130 – 132 .
  • Diasio , R. B. , Beavers , T. L. and Carpenter , J. T. 1988 . Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicity . J. Clin. Invest. , 81 : 47 – 51 .
  • van Kuilenburg , A. B. P. 2004 . Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil . Eur. J. Cancer , 40 : 939 – 950 .
  • Wei , X. , McLeod , H. L. , McMurrough , J. and Gonzalez , F. J. 1996 . Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity . J. Clin. Invest. , 98 : 610 – 615 .
  • Collie-Duguid , E. S. R. , Etienne , M. C. , Milano , G. A. and McLeod , H. L. 2000 . Known variant DPYD alleles do not explain DPD deficiency in cancer patients . Pharmacogenetics , 10 : 217 – 223 .
  • van Kuilenburg , A. B. P. , Haasjes , J. , Richel , D. J. , Zoetekouw , L. , van Lenthe , H. , De Abreu , R. A. , Maring , J. G. , Vreken , P. and van Gennip , A. H. 2000 . Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene . Clin. Cancer Res. , 6 : 4705 – 4712 .
  • Johnson , M. R. , Wang , K. and Diasio , R. B. 2002 . Profound dihydropyrimidine dehydrogenase deficiency resulting from a novel compound heterozygote genotype . Clin. Cancer Res. , 8 : 768 – 774 .
  • Wei , X. , Elizondo , G. , Sapone , A. , McLeod , H. L. , Raunio , H. and Gonzalez , F. J. 1998 . Characterization of the human dihydropyrimidine dehydrogenase gene . Genomics , 51 : 391 – 400 .
  • Dobritzsch , D. , Schneider , G. , Schnackerz , K. D. and Lindqvist , Y. 2001 . Crystal structure of dihydropyrimidine dehydrogenase, a major determinant of the pharmacokinetics of the anti-cancer drug 5-fluorouracil . EMBO J. , 20 : 650 – 660 .
  • Gross , E. , Ullrich , T. , Seck , K. , Mueller , V. , de Wit , M. , von Schilling , C. , Meindl , A. , Schmitt , M. and Kiechle , M. 2003 . Detailed analysis of five mutations in dihydropyrimidine dehydrogenase detected in cancer patients with 5-fluorouracil-related side effects . Hum. Mutat. , 22 : 498
  • van Lenthe , H. , van Kuilenburg , A. B. P. , Ito , T. , Bootsma , A. H. , van Cruchten , A. G. , Wada , Y. and van Gennip , A. H. 2000 . Defects in pyrimidine degradation identified by HPLC-electrospray tandem mass spectrometry of urine specimens or urine-soaked filter paper strips . Clin. Chem. , 46 : 1916 – 1922 .
  • van Kuilenburg , A. B. P. , van Lenthe , H. , Tromp , A. , Veltman , P. C. J. and van Gennip , A. H. 2000 . Pitfalls in the diagnosis of patients with a partial dihydropyrimidine dehydrogenase deficiency . Clin. Chem. , 46 : 9 – 17 .
  • van Gennip , A. H. , Abeling , N. G. G. M. , Vreken , P. and van Kuilenburg , A. B. P. 1997 . Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects . J. Inherit. Metab. Dis. , 20 : 203 – 213 .
  • Mattison , L. K. , Soong , R. and Diasio , R. B. 2002 . Implications of dihydropyrimidine dehydrogenase on 5-fluorouracil pharmacogenetics and pharmacogenomics . Pharmacogenomics , 3 : 485 – 492 .
  • Johnson , M. R. and Diasio , R. B. 2001 . Importance of dihydropyrimidine dehydrogenase (DPD) deficiency in patients exhibiting toxicity following treatment with 5-fluorouracil . Adv. Enzyme Regul. , 41 : 151 – 157 .
  • van Kuilenburg , A. B. P. , Meinsma , J. R. , Zonnenberg , B. A. , Zoetekouw , L. , Baas , F. , Matsuda , K. , Tamaki , N. and van Gennip , A. H. 2003 . Dihydropyrimidinase deficiency and severe 5-Fluorouracil toxicity . Clin. Cancer Res. , 9 : 4363 – 4367 .
  • den Dunnen , J. T. and Antonarakis , S. E. 2000 . Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion . Hum. Mutat. , 15 : 7 – 12 .
  • van Kuilenburg , A. B. P. , Meinsma , J. R. , Zoetekouw , L. and van Gennip , A. H. 2002 . Increased risk of grade IV neutropenia after administration of 5-fluorouracil due to a dihydropyrimidine dehydrogenase deficiency: high prevalence of the IVS14+1g > a mutation . Int. J. Cancer , 101 : 253 – 258 .

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.