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Genetic Analysis and Prenatal Diagnosis of a Chinese Pedigree Affected with Syndromic X-Linked Intellectual Disability 94 Due to Exon 5-12 Deletion in GRIA3 Gene

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  • Yanting Jiang

    (Shenzhen Qianhai Shekou free Trade Zone hospital, China)

Abstract

GRIA3 belongs to a class of an alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA)-sensitive glutamate receptor that operates as a ligand-gatedion channel in the central nervous system and has an essential role in excitatory synaptic transmission, localized on the X chromosome, is related to syndromic X-linked intellectual disability 94(MRX94). MRX94, characterized by brain anomalies, namely cerebellar hypoplasia, specific facial features, and intellectual disability, is produced by different mutations in the GRIA3 gene.

Suggested Citation

  • Yanting Jiang, 2023. "Genetic Analysis and Prenatal Diagnosis of a Chinese Pedigree Affected with Syndromic X-Linked Intellectual Disability 94 Due to Exon 5-12 Deletion in GRIA3 Gene," Biomedical Journal of Scientific & Technical Research, Biomedical Research Network+, LLC, vol. 52(5), pages 44164-44168, September.
    • Handle: RePEc:abf:journl:v:52:y:2023:i:5:p:44164-44168
    DOI: 10.26717/BJSTR.2023.52.008322
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