Article
Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.
Human mutation - 1 Jul 2018
van Kuilenburg André B P, Tarailo-Graovac Maja, Meijer Judith, Drogemoller Britt, Vockley Jerry, Maurer Dirk, Dobritzsch Doreen, Ross Colin J, Wasserman Wyeth, Meinsma Rutger, Zoetekouw Lida, van Karnebeek Clara D M
Abstract excerpt
Dihydropyrimidine dehydrogenase (DPD) deficiency is associated with a variable clinical presentation. A family with three DPD-deficient patients presented with unusual clinical phenotypes including pregnancy-induced symptoms, transient visual impairment, severe developmental delay, cortical blindness, and delayed myelination in the brain. DPYD Sanger sequencing showed heterozygosity for the c.1905+1G>A mutation...
Topics
- Adolescent
- Adult
- Child, Preschool
- Chromosome Mapping
- Dihydropyrimidine Dehydrogenase Deficiency
- Dihydrouracil Dehydrogenase (NADP)
- Exons
- Female
- Genotype