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Updated: Aug 15, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
[A case of mental retardation caused by a frameshift variant of SYNGAP1 gene]
Yue Shen1, Guanjun Luo, Chao Lu
1Institute of Science and Technology, National Health Commission, Beijing 100081, China. tcmdoctor@163.com.
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.
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