Analysis of DPYS gene variants in a child with dihydropyrimidase deficiency.
10.3760/cma.j.issn.1003-9406.2020.06.013
- VernacularTitle:一例二氢嘧啶酶缺陷症的
DPYS基因变异分析
- Author:
Meifang LEI
1
;
Hong LI
;
Yuqin ZHANG
;
Jianbo SHU
;
Qianqian ZHANG
;
Qing LI
Author Information
1. Department of Neurology, Tianjin Pediatric Hospital, Tianjin 300074, China. zhangyuqin0809@sina.com.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(6):650-652
- CountryChina
- Language:Chinese
-
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.
