[A case of mental retardation caused by a frameshift variant of SYNGAP1 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(1): 57-61, 2023 Jan 10.
Article
en Zh
| MEDLINE
| ID: mdl-36585002
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:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Discapacidad Intelectual
Límite:
Child
/
Humans
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2023
Tipo del documento:
Article
País de afiliación:
China