Analysis of DPYS gene variants in a child with dihydropyrimidase deficiency
Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal Of Medical Genetics
Published:
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).
Conclusions: 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.
Authors