Two unrelated pediatric DPYS deficiency cases are being described as compound heterozygotes for a novel intronic mutation c.1443+5G>A in intron 8 and a previously described missense mutation c.1001A>G (p.Q334R) in exon 6.
Stepwise Cox regression modelling suggested that the methylation of genes HSPB1, CCND2 and DPYS contributed objective prognostic information to Gleason score and PSA with respect to prostate cancer-related death.
The p.S379R and p.L7V mutations were likely to cause structural destabilization and protein misfolding. Four mutations were identified in multiple unrelated DHP (Montrer DPYD Kits ELISA) patients, indicating that DHP (Montrer DPYD Kits ELISA) deficiency may be more common than anticipated.
Results indicate that missense and nonsense variants in DPYS are infrequent, however, the development of serious primarily gastrointestinal toxicity could be influenced by non-coding DPYS sequence variants c.-1T>C and IVS1-58T>C.
clinical, biochemical & genetic findings of two newly identified patients with a complete DHP (Montrer DPYD Kits ELISA) deficiency; both patients were compound heterozygous for the missense mutation 1078T>C (W360R) in exon 6 and a novel missense mutation 1235G>T (R412M) in exon 7
data presented in this study offers evidence for the possible genetic regulation of the DPYS gene and its possible influence on uracil catabolic pathway
Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism. Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb transcript and a minor 3.8-kb transcript. Defects in the DPYS gene are linked to dihydropyrimidinuria.
dihydropyrimidine amidohydrolase , hydantoinase , DHP , DHPase , dihydropyrimidinase
GENE ID | SPECIES |
---|---|
1807 | Homo sapiens |
64705 | Mus musculus |
65135 | Rattus norvegicus |
3933935 | Jannaschia sp. CCS1 |
4010267 | Burkholderia xenovorans LB400 |
4249970 | Ralstonia eutropha H16 |
4690821 | Verminephrobacter eiseniae EF01-2 |
5690979 | Azorhizobium caulinodans ORS 571 |
6132533 | Methylobacterium sp. 4-46 |
7353624 | Rhodobacter sphaeroides KD131 |
7975213 | Variovorax paradoxus S110 |
8016650 | Rhizobium leguminosarum bv. trifolii WSM1325 |
9307588 | Arabidopsis lyrata subsp. lyrata |
9886600 | Ketogulonicigenium vulgare Y25 |
1050490 | Bradyrhizobium diazoefficiens USDA 110 |
4196355 | Roseobacter denitrificans OCh 114 |
6264902 | Bordetella avium 197N |
6453799 | Cupriavidus taiwanensis LMG 19424 |
8564745 | Comamonas testosteroni CNB-2 |
8791932 | Azospirillum sp. B510 |
10069347 | Pantoea sp. At-9b |
100144569 | Danio rerio |
495311 | Xenopus laevis |
420266 | Gallus gallus |
509241 | Bos taurus |
100856067 | Canis lupus familiaris |
100717795 | Cavia porcellus |