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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.06.013 | DOI Listing |
Publication Analysis
Top Keywords
dpys gene
12
child dihydropyrimidase
8
compound heterozygous
8
heterozygous variants
8
variants dpys
8
[analysis dpys
4
variants
4
gene variants
4
child
4
variants child
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!