Reclassification of the GRIA3 splice-site variant in an X-linked family with intellectual disability and psychiatric symptoms

Abstract excerpt

Background The GRIA3 gene is located on the X chromosome and encodes a subunit (GluR3) of the a-amino-3- hydroxy-5-methylisoxazole-4-propionic acid receptor (AMPAR). The pathogenic variants of GRIA3 are mostly associated with neurodevelopmental disorders. Patients were overwhelmingly male and presented mainly with intellectual disability, dystonia, epilepsy and other symptoms. Methods In this study, we reported a...

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