Novel GRIA2 variant in a patient with atypical autism spectrum disorder and psychiatric symptoms: a case report.

ABSTRACT:

Background

As sequencing technology has advanced in recent years, a series of synapse-related gene variants have been reported to be associated with autism spectrum disorders (ASDs). The α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptor is a subtype of the ionotropic glutamate receptor, whose number or composition changes can regulate the strength and plasticity of synapses.

Case presentation

Here, we report a de novo GRIA2 variant (NM_001083619.3: c.2308G > A, p.Ala770Thr) in a patient with obvious behavior regression and psychiatric symptoms. It encodes GluA2, which is the crucial subunit of the AMPA receptor, and the missense variation is predicted to result in instability of the protein structure.

Conclusions

The association between GRIA2 va

SUBMITTER: Cai Q 

PROVIDER: S-EPMC9632133 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature