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  • Title: [A case of mental retardation caused by a frameshift variant of SYNGAP1 gene].
    Author: Shen Y, Luo G, Lu C, Tan Y, Cheng T, Qian X, Li N, Luo M, Cao Z, Ma X, Zhao Y.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jan 10; 40(1):57-61. PubMed ID: 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.
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