[Analysis of DPYS gene variants in a child with dihydropyrimidase deficiency].

To explore the genetic basis for a child with dihydropyrimidase (DHP) deficiency.High-throughput sequencing was carried out for the child. Suspected variants were verified by using Sanger sequencing.The proband was found to carry compound heterozygous variants of the DPYS gene, namely c.1468C>T (a missense variant) and c.1339-1363del (a frameshifting variant).The compound heterozygous variants of the DPYS gene probably underlie the DHP in this child. Above result has enabled genetic counseling and prenatal diagnosis for his parents.