Analysis of gene variant in a Chinese child affected with dihydropyrimidinase deficiency.
10.3760/cma.j.cn511374-20191101-00553
- Author:
Jianbo SHU
1
;
Fengying CAI
;
Xiaowei XU
;
Xinjie ZHANG
;
Xuetao WANG
;
Jie ZHENG
;
Chunhua ZHANG
;
Chunqun CAI
;
Shuxiang LIN
;
Yuqin ZHANG
Author Information
1. Tianjin Pediatric Research Institute, Tianjin Children's Hospital, Tianjin 300134, China. zhangyuqin0809@sina.com.
- Publication Type:Journal Article
- MeSH:
Amidohydrolases/genetics*;
Asian Continental Ancestry Group/genetics*;
Child;
Exons;
Female;
Humans;
Metabolism, Inborn Errors/genetics*;
Mutation;
Pedigree
- From:
Chinese Journal of Medical Genetics
2020;37(11):1241-1243
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the molecular etiology of a Chinese child affected with dihydropyrimidinase deficiency.
METHODS:Genomic DNA was extracted from peripheral blood samples of the family members. Pathogenic variant was determined by whole exome sequencing and verified by Sanger sequencing.
RESULTS:The child was found to harbor homozygous c.905G>A (p.Arg302Gln) variants in exon 5 of the DPYS gene, for which her parents were both heterozygous carriers.
CONCLUSION:The homozygous c.905G>A (p.Arg302Gln) variants of the DPYS gene probably underlies the dihydropyrimidinase deficiency in the child. Above result has enabled genetic counseling and prenatal diagnosis for this family.
