Analysis of DPYS gene variants in a child with dihydropyrimidase deficiency / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a child with dihydropyrimidase (DHP) deficiency.@*METHODS@#High-throughput sequencing was carried out for the child. Suspected variants were verified by using Sanger sequencing.@*RESULTS@#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).@*CONCLUSION@#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.