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Updated: Jun 3, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a
Sabine Weidensee1, Peter Goettig, Marko Bertone
1Gemeinschaftspraxis für Humangenetik Demuth und Weidensee, D-99084 Erfurt, Germany.
Objectives:
Evaluation of a non-synonymous mutation associated with dihydropyrimidine dehydrogenase (DPD) deficiency.
Design And Methods:
DPD enzyme analysis, mutation analysis and molecular dynamics simulations based on the 3D-model of DPD.
Results:
The substitution Lys63Glu is likely to affect the FAD binding pocket within the DPD protein and contributes to a near-complete DPD deficiency in a patient with developmental retardation.
Conclusions:
Like other DPD variants attenuating FAD binding, Lys63Glu should be included in screening for DPD deficiency.
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