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Updated: Dec 20, 2025
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
[Analysis of DPYS gene variants in a child with dihydropyrimidase deficiency]
Meifang Lei1, Hong Li, Yuqin Zhang
1Department of Neurology, Tianjin Pediatric Hospital, Tianjin 300074, China. zhangyuqin0809@sina.com.
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.
