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.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-928357
Biblioteca responsável:
WPRO
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.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Encefalopatias Metabólicas
/
Glutaril-CoA Desidrogenase
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Erros Inatos do Metabolismo dos Aminoácidos
/
Mutação
Limite:
Criança
/
Feminino
/
Humanos
/
Recém-Nascido
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2022
Tipo de documento:
Artigo