Analysis of GCDH gene variant in a child with Glutaric aciduria type I / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 39-42, 2022.
Article
Dans Chinois
| WPRIM
| ID: wpr-928357
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a neonate affected with Glutaric aciduria type I (GA-I).@*METHODS@#Targeted capture and high-throughput sequencing was carried out for the proband and her parents. Candidate variants were verified by Sanger sequencing.@*RESULTS@#The proband was found to harbor compound heterozygous variants of the GCDH gene, namely c.523G>A and c.1190T>C, which was derived from her father and mother, respectively.@*CONCLUSION@#The compound heterozygous variants of the GCDH gene probably underlay the GA-I in the patient.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Encéphalopathies métaboliques
/
Glutaryl-CoA dehydrogenase
/
Séquençage nucléotidique à haut débit
/
Aminoacidopathies congénitales
/
Mutation
Limites du sujet:
Enfant
/
Femelle
/
Humains
/
Nouveau-né
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2022
Type:
Article
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