ArticleHuman genetics2009
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).
Article in Human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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23 citing papers in PubMed, 61 citations in OpenAlex.
- Genetic Variants Associated with Fluoropyrimidine-Induced Toxicity in Real-World Patients After Pre-EmptivePharmaceuticals (Basel, Switzerland) · 2026Article
- Identification of a largeFrontiers in pharmacology · 2026Article
- Review
- A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report.BMC medical genomics · 2024Article
- Review
- Importance of RareFrontiers in pharmacology · 2022Article
- A rigorousFrontiers in molecular neuroscience · 2022Article
- Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1.JIMD reports · 2019Article
- Convergence of independent DISC1 mutations on impaired neurite growth via decreased UNC5D expression.Translational psychiatry · 2018Article
- A genome scan for genes underlying adult body size differences between Central African hunter-gatherers and farmers.Human genetics · 2018Article
- De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.American journal of human genetics · 2017Article
- Frequent intragenic rearrangements of DPYD in colorectal tumours.The pharmacogenomics journal · 2015Article
- Association of new deletion/duplication region at chromosome 1p21 with intellectual disability, severe speech deficit and autism spectrum disorder-like behavior: an all-in approach to solving theTranslational neuroscience · 2015Review
- Molecular characterization of common fragile sites as a strategy to discover cancer susceptibility genes.Cellular and molecular life sciences : CMLS · 2014Review
- Dihydropyrimidine dehydrogenase deficiency in two malaysian siblings with abnormal MRI findings.Molecular syndromology · 2014Article
- Inborn errors of pyrimidine metabolism: clinical update and therapy.Journal of inherited metabolic disease · 2014Article
- Somatic copy number changes in DPYD are associated with lower risk of recurrence in triple-negative breast cancers.British journal of cancer · 2013Article
- A discovery resource of rare copy number variations in individuals with autism spectrum disorder.G3 (Bethesda, Md.) · 2012Article
- CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.Nature cell biology · 2012Article
- Clinical review of genetic epileptic encephalopathies.European journal of medical genetics · 2012Review
Corrections and comments
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Authors and funding
20 authors at 10 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dihydropyrimidine dehydrogenase (DPD) deficiency is an infrequently described autosomal recessive disorder of the pyrimidine degradation pathway and can lead to mental and motor retardation and convulsions. DPD deficiency is also known to cause a potentially lethal toxicity following administration of the antineoplastic agent 5-fluorouracil. In an ongoing study of 72 DPD deficient patients, we analysed the molecular background of 5 patients in more detail in whom initial sequence analysis did not reveal pathogenic mutations. In three patients, a 13.8 kb deletion of exon 12 was found and in one patient a 122 kb deletion of exon 14-16 of DPYD. In the fifth patient, a c.299_302delTCAT mutation in exon 4 was found and also loss of heterozygosity of the entire DPD gene. Further analysis demonstrated a de novo deletion of approximately 14 Mb of chromosome 1p13.3-1p21.3, which includes DPYD. Haploinsufficiency of NTNG1, LPPR4, GPSM2, COL11A1 and VAV3 might have contributed to the severe psychomotor retardation and unusual craniofacial features in this patient. Our study showed for the first time the presence of genomic deletions affecting DPYD in 7% (5/72) of all DPD deficient patients. Therefore, screening of DPD deficient patients for genomic deletions should be considered.
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