A case of mental retardation caused by a frameshift variant of SYNGAP1 gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 57-61, 2023.
Artículo
en Chino
| WPRIM
| ID: wpr-970878
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child with mental retardation.@*METHODS@#Whole exome sequencing was carried out for the child. Candidate variant was screened based on his clinical features and verified by Sanger sequencing.@*RESULTS@#The child was found to harbor a c.995_1002delAGACAAAA(p.Asp332AlafsTer84) frameshift variant in the SYNGAP1 gene. Bioinformatic analysis suggested it to be pathogenic. The same variant was not detected in either parent.@*CONCLUSION@#The c.995_1002delAGACAAAA(p.Asp332AlafsTer84) frameshift variant of the SYNGAP1 gene probably underlay the mental retardation in this child. Above finding has expanded the spectrum of SYNGAP1 gene variants and provided a basis for the diagnosis and treatment for this child.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Mutación del Sistema de Lectura
/
Biología Computacional
/
Proteínas Activadoras de ras GTPasa
/
Secuenciación de Nucleótidos de Alto Rendimiento
/
Heterocigoto
/
Discapacidad Intelectual
/
Mutación
Límite:
Niño
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2023
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS