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
Dans Chinois
| WPRIM
| ID: wpr-879475
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Exons
/
Asiatiques
/
Amidohydrolases
/
Erreurs innées du métabolisme
/
Mutation
Limites du sujet:
Enfant
/
Femelle
/
Humains
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2020
Type:
Article
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