Analysis of gene variant in a Chinese child affected with dihydropyrimidinase deficiency
Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal Of Medical Genetics
Published:
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.
Conclusions: 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.
Authors
Jianbo Shu, Fengying Cai, Xiaowei Xu, Xinjie Zhang, Xuetao Wang, Jie Zheng, Chunhua Zhang, Chunqun Cai, Shuxiang Lin, Yuqin Zhang