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.
Article
Dans Chinois
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Mutation avec décalage du cadre de lecture
/
Biologie informatique
/
Protéines d'activation de la ras GTPase
/
Séquençage nucléotidique à haut débit
/
Hétérozygote
/
Déficience intellectuelle
/
Mutation
Limites du sujet:
Enfant
/
Humains
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2023
Type:
Article
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS