1.Analysis of gene variant in a Chinese child affected with dihydropyrimidinase deficiency.
Jianbo SHU ; Fengying CAI ; Xiaowei XU ; Xinjie ZHANG ; Xuetao WANG ; Jie ZHENG ; Chunhua ZHANG ; Chunqun CAI ; Shuxiang LIN ; Yuqin ZHANG
Chinese Journal of Medical Genetics 2020;37(11):1241-1243
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.
Amidohydrolases/genetics*
;
Asian Continental Ancestry Group/genetics*
;
Child
;
Exons
;
Female
;
Humans
;
Metabolism, Inborn Errors/genetics*
;
Mutation
;
Pedigree