A case of mental retardation caused by a frameshift variant of SYNGAP1 gene.
10.3760/cma.j.cn511374-20220120-00047
- VernacularTitle:SYNGAP1基因移码变异所致精神发育迟滞患儿1例的遗传学分析
- Author:
Yue SHEN
1
;
Guanjun LUO
;
Chao LU
;
Yuan TAN
;
Tingting CHENG
;
Xuguang QIAN
;
Nuo LI
;
Minna LUO
;
Zongfu CAO
;
Xu MA
;
Yong ZHAO
Author Information
1. Institute of Science and Technology, National Health Commission, Beijing 100081, China. tcmdoctor@163.com.
- Publication Type:Journal Article
- MeSH:
Child;
Humans;
Intellectual Disability/genetics*;
Frameshift Mutation;
High-Throughput Nucleotide Sequencing;
Computational Biology;
Heterozygote;
Mutation;
ras GTPase-Activating Proteins/genetics*
- From:
Chinese Journal of Medical Genetics
2023;40(1):57-61
- CountryChina
- Language:Chinese
-
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.
