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.
Artículo
en Chino
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Encefalopatías Metabólicas
/
Glutaril-CoA Deshidrogenasa
/
Secuenciación de Nucleótidos de Alto Rendimiento
/
Errores Innatos del Metabolismo de los Aminoácidos
/
Mutación
Límite:
Niño
/
Femenino
/
Humanos
/
Recién Nacido
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2022
Tipo del documento:
Artículo
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