| Gene/chromosomal region | Type of disruption | Function | Reference |
| 15q11–13 (GABRB,GABRA5, GABRG3) | Chromosomal abnormalities | GABAAβ3, GABAAα5, GABAAγ3 subunits | [15, 114] | D2S2188 (2q) (DLX1, DLX2, GAD65) | High LOD score | Regulation of telencephalic GABAergic neuron development; GABA synthesizing enzyme | [19, 115] | D7S477 (7q) (DLX5, DLX6) | High LOD score | Regulation of forebrain GABAergic neuron development | [19, 115] | RELN | SNPs, CNVs, rare variants | Neuronal migration, lamination, minicolumn formation, neurotransmission regulation and synaptic plasticity | [15, 116] | Neuroligin-3 | Point mutation | Postsynaptic cell adhesion molecule | [108, 110] | Neuroligin-4 | Rare mutations, CNVs | Postsynaptic cell adhesion molecule | [108, 110, 117, 118] | Neurexin-1 | Chromosomal abnormalities, CNVs | Presynaptic cell adhesion molecule | [108, 118–121] | Shank-3 | Deletions, rare mutations, chromosomal abnormalities. | Postsynaptic scaffolding protein | [108, 111–113] |
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