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Updated: Nov 30, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
[Analysis of gene variant in a Chinese child affected with dihydropyrimidinase deficiency]
Jianbo Shu1, Fengying Cai, Xiaowei Xu
1Tianjin Pediatric Research Institute, Tianjin Children's Hospital, Tianjin 300134, China. zhangyuqin0809@sina.com.
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.
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