[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
ISSN: 1003-9406
Titre abrégé: Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Pays: China
ID NLM: 9425197
Informations de publication
Date de publication:
10 Jun 2020
10 Jun 2020
Historique:
entrez:
31
5
2020
pubmed:
31
5
2020
medline:
24
10
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 32472544
pii: 940637133
doi: 10.3760/cma.j.issn.1003-9406.2020.06.013
doi:
Substances chimiques
Nerve Tissue Proteins
0
Types de publication
Journal Article
Langues
chi
Sous-ensembles de citation
IM