A maternally-inherited missense variant in GABRA3 that resulted in skipping of exon 2 of the gene was detected in a male ASD patient (Piton et al., 2012).
Subunit of the GABA receptor. GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.
Type of Disorder
Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals.