Dihydropyrimidine Dehydrogenase Deficiency Caused by a Novel Genomic Deletion c.505_513del of DPYD

Andre B. P. van Kuilenburg; J. Meijer; G. Gokcay; T. Baykal; M. E. Rubio-Gozalbo; A. N. P. M. Mul; C. E. M. de Die-Smulders; P. Weber; A. Capone Mori; J. Bierau; B. Fowler; K. Macke; J. O. Sass; R. Meinsma; J. B. Hennermann; P. Miny; L. Zoetekouw; J. Roelofsen; R. Vijzelaar; J. Nicolai; Raoul C. M. Hennekam

doi:10.1080/15257771003730227

Dihydropyrimidine Dehydrogenase Deficiency Caused by a Novel Genomic Deletion c.505_513del of DPYD

Andre B. P. van Kuilenburg^*
, J. Meijer
, G. Gokcay
, T. Baykal
, M. E. Rubio-Gozalbo
, A. N. P. M. Mul
, C. E. M. de Die-Smulders
, P. Weber
, A. Capone Mori
, J. Bierau
, B. Fowler
, K. Macke
, J. O. Sass
, R. Meinsma
, J. B. Hennermann
, P. Miny
, L. Zoetekouw
, J. Roelofsen
, R. Vijzelaar
, J. Nicolai

Raoul C. M. Hennekam

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of the pyrimidine degradation pathway. In a patient presenting with convulsions, psychomotor retardation and Reye like syndrome, strongly elevated levels of uracil and thymine were detected in urine. No DPD activity could be detected in peripheral blood mononuclear cells. Analysis of the gene encoding DPD (DPYD) showed that the patient was homozygous for a novel c.505_513del (p.169_171del) mutation in exon 6 of DPYD.

Original language	English
Pages (from-to)	509-514
Number of pages	6
Journal	Nucleosides Nucleotides & Nucleic Acids
Volume	29
Issue number	4-6
DOIs	https://doi.org/10.1080/15257771003730227
Publication status	Published - 2010

Keywords

Dihydropyrimidine dehydrogenase
DPYD
pyrimidine
deletions

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10.1080/15257771003730227

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van Kuilenburg, A. B. P., Meijer, J., Gokcay, G., Baykal, T., Rubio-Gozalbo, M. E., Mul, A. N. P. M., de Die-Smulders, C. E. M., Weber, P., Mori, A. C., Bierau, J., Fowler, B., Macke, K., Sass, J. O., Meinsma, R., Hennermann, J. B., Miny, P., Zoetekouw, L., Roelofsen, J., Vijzelaar, R., ... Hennekam, R. C. M. (2010). Dihydropyrimidine Dehydrogenase Deficiency Caused by a Novel Genomic Deletion c.505_513del of DPYD. Nucleosides Nucleotides & Nucleic Acids, 29(4-6), 509-514. https://doi.org/10.1080/15257771003730227

@article{20cf892526f246388dad178c83ce6ad8,

title = "Dihydropyrimidine Dehydrogenase Deficiency Caused by a Novel Genomic Deletion c.505\_513del of DPYD",

abstract = "Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of the pyrimidine degradation pathway. In a patient presenting with convulsions, psychomotor retardation and Reye like syndrome, strongly elevated levels of uracil and thymine were detected in urine. No DPD activity could be detected in peripheral blood mononuclear cells. Analysis of the gene encoding DPD (DPYD) showed that the patient was homozygous for a novel c.505\_513del (p.169\_171del) mutation in exon 6 of DPYD.",

keywords = "Dihydropyrimidine dehydrogenase, DPYD, pyrimidine, deletions",

author = "\{van Kuilenburg\}, \{Andre B. P.\} and J. Meijer and G. Gokcay and T. Baykal and Rubio-Gozalbo, \{M. E.\} and Mul, \{A. N. P. M.\} and \{de Die-Smulders\}, \{C. E. M.\} and P. Weber and Mori, \{A. Capone\} and J. Bierau and B. Fowler and K. Macke and Sass, \{J. O.\} and R. Meinsma and Hennermann, \{J. B.\} and P. Miny and L. Zoetekouw and J. Roelofsen and R. Vijzelaar and J. Nicolai and Hennekam, \{Raoul C. M.\}",

year = "2010",

doi = "10.1080/15257771003730227",

language = "English",

volume = "29",

pages = "509--514",

journal = "Nucleosides Nucleotides \& Nucleic Acids",

issn = "1525-7770",

publisher = "Routledge/Taylor \& Francis Group",

number = "4-6",

}

van Kuilenburg, ABP, Meijer, J, Gokcay, G, Baykal, T, Rubio-Gozalbo, ME, Mul, ANPM, de Die-Smulders, CEM, Weber, P, Mori, AC, Bierau, J, Fowler, B, Macke, K, Sass, JO, Meinsma, R, Hennermann, JB, Miny, P, Zoetekouw, L, Roelofsen, J, Vijzelaar, R, Nicolai, J & Hennekam, RCM 2010, 'Dihydropyrimidine Dehydrogenase Deficiency Caused by a Novel Genomic Deletion c.505_513del of DPYD', Nucleosides Nucleotides & Nucleic Acids, vol. 29, no. 4-6, pp. 509-514. https://doi.org/10.1080/15257771003730227

TY - JOUR

T1 - Dihydropyrimidine Dehydrogenase Deficiency Caused by a Novel Genomic Deletion c.505_513del of DPYD

AU - van Kuilenburg, Andre B. P.

AU - Meijer, J.

AU - Gokcay, G.

AU - Baykal, T.

AU - Rubio-Gozalbo, M. E.

AU - Mul, A. N. P. M.

AU - de Die-Smulders, C. E. M.

AU - Weber, P.

AU - Mori, A. Capone

AU - Bierau, J.

AU - Fowler, B.

AU - Macke, K.

AU - Sass, J. O.

AU - Meinsma, R.

AU - Hennermann, J. B.

AU - Miny, P.

AU - Zoetekouw, L.

AU - Roelofsen, J.

AU - Vijzelaar, R.

AU - Nicolai, J.

AU - Hennekam, Raoul C. M.

PY - 2010

Y1 - 2010

N2 - Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of the pyrimidine degradation pathway. In a patient presenting with convulsions, psychomotor retardation and Reye like syndrome, strongly elevated levels of uracil and thymine were detected in urine. No DPD activity could be detected in peripheral blood mononuclear cells. Analysis of the gene encoding DPD (DPYD) showed that the patient was homozygous for a novel c.505_513del (p.169_171del) mutation in exon 6 of DPYD.

AB - Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of the pyrimidine degradation pathway. In a patient presenting with convulsions, psychomotor retardation and Reye like syndrome, strongly elevated levels of uracil and thymine were detected in urine. No DPD activity could be detected in peripheral blood mononuclear cells. Analysis of the gene encoding DPD (DPYD) showed that the patient was homozygous for a novel c.505_513del (p.169_171del) mutation in exon 6 of DPYD.

KW - Dihydropyrimidine dehydrogenase

KW - DPYD

KW - pyrimidine

KW - deletions

U2 - 10.1080/15257771003730227

DO - 10.1080/15257771003730227

M3 - Article

C2 - 20544545

SN - 1525-7770

VL - 29

SP - 509

EP - 514

JO - Nucleosides Nucleotides & Nucleic Acids

JF - Nucleosides Nucleotides & Nucleic Acids

IS - 4-6

ER -

Dihydropyrimidine Dehydrogenase Deficiency Caused by a Novel Genomic Deletion c.505_513del of DPYD

Abstract

Keywords

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