Table 1: Excitatory/inhibitory balance-related genes implicated in autism.

Gene/chromosomal
region
Type of disruptionFunctionReference

15q11–13
(GABRB,GABRA5,
GABRG3)
Chromosomal abnormalitiesGABAAβ3, GABAAα5, GABAAγ3 subunits [15, 114]
D2S2188 (2q) (DLX1, DLX2, GAD65)High LOD scoreRegulation of telencephalic GABAergic neuron development; GABA synthesizing enzyme[19, 115]
D7S477 (7q) (DLX5, DLX6)High LOD scoreRegulation of forebrain GABAergic neuron development [19, 115]
RELNSNPs, CNVs, rare variantsNeuronal migration, lamination, minicolumn formation, neurotransmission regulation and synaptic plasticity [15, 116]
Neuroligin-3Point mutationPostsynaptic cell adhesion molecule [108, 110]
Neuroligin-4Rare mutations, CNVsPostsynaptic cell adhesion molecule[108, 110, 117, 118]
Neurexin-1Chromosomal abnormalities, CNVsPresynaptic cell adhesion molecule[108, 118121]
Shank-3Deletions, rare mutations, chromosomal abnormalities.Postsynaptic scaffolding protein[108, 111113]