A novel stop-gain mutation in DPYS gene causing Dihidropyrimidinase deficiency, a case report.

ABSTRACT:

Background

Dihidropyrimidinase (DHP) deficiency is an inherited inborn error of pyrimidine metabolism with a variable clinical presentation and even asymptomatic subjects. Dihydropyrimidinase is encoded by the DPYS gene, thus pathogenic mutations in this gene can cause DHP deficiency. To date, several variations in the DPYS gene have been reported but only 23 of them have been confirmed to be pathogenic. Therefore, the biochemical, clinical and genetic aspects of this disease are still unclear.

Case presentation

Here, we report a 22-year-old woman with DHP deficiency. To identify the genetic cause of DHP deficiency in this patient, Whole Exome Sequencing (WES) was performed, which revealed a novel homozygote stop gain mutation (NM_001385: Exon 9, c.1501 A > T, p.K501X) in th

SUBMITTER: Mirzaei M 

PROVIDER: S-EPMC7325154 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature