A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor binding

被引：4

作者：

Weidensee, Sabine

Goettig, Peter ^{[1
]}

Bertone, Marko ^{[2
]}

Haas, Dorothea ^{[3
]}

Magdolen, Viktor ^{[2
]}

Kiechle, Marion ^{[2
]}

Meindl, Alfons ^{[2
]}

van Kuilenburg, Andre B. P. ^{[4
]}

Gross, Eva ^{[2
]}

机构：

[1] MPI, Dept Biochem, D-82152 Martinsried, Germany

[2] Tech Univ Munich, Clin Gynecol & Obstet, Klinikum Rechts Isar, D-81675 Munich, Germany

[3] Univ Childrens Hosp, Dept Gen Pediat, Div Inborn Metab Dis, D-69120 Heidelberg, Germany

[4] Univ Amsterdam, Acad Med Ctr, Lab Genet Metab Dis, Div Clin Chem, NL-1105 AZ Amsterdam, Netherlands

来源：

CLINICAL BIOCHEMISTRY | 2011年 / 44卷 / 8-9期

关键词：

DPD deficiency; DPYD; Protein structure; Developmental retardation; DPYD; GENE; IDENTIFICATION;

D O I：

10.1016/j.clinbiochem.2011.03.033

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

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. (C) 2011 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

引用

页码：722 / 724

页数：3

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