Analysis of gene variant in a Chinese child affected with dihydropyrimidinase deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 1241-1243, 2020.
Article
in Zh
| WPRIM
| ID: wpr-879475
Responsible library:
WPRO
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.
Full text:
1
Database:
WPRIM
Main subject:
Pedigree
/
Exons
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Asian People
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Amidohydrolases
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Metabolism, Inborn Errors
/
Mutation
Limits:
Child
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Female
/
Humans
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2020
Document type:
Article