Table 1.
Candidate genes validated in autism spectrum disorders (ASD) and schizophrenia spectrum disorders (SSD).
| Gene | Function | Other phenotypes |
|---|---|---|
| RELN | Neuronal migration, polarization | Lissencephaly, Alzheimer’s disease |
| DISC1 | Neural development, synaptic plasticity, mammalian target of rapamycin (mTOR) regulation | Depression, bipolar disorder |
| FOXP2 | Regulates DISC1, CTNAP2, language, and neural development | Developmental verbal dyspraxia |
| BDNF | Neurotrophic factor, regulates mTOR/AKT | Alzheimer’s disease, Huntington disease |
| MECP2 | Epigenetic regulator | Rett syndrome |
| UBE3A | Epigenetic regulator | Angelmann syndrome |
| NLGN3 | Postsynaptic component coupled with NRXN | Undefined |
| NLG4 | Postsynaptic component coupled with NXRN | ID |
| NRXN1 | Presynaptic component coupled with NXRN | Pitt–Hopkins phenotype |
| SHANK3 | Postsynaptic protein in glutamatergic neuron | Phelan–McDermid syndrome |
| CNTAP2 | Cell adhesion and differentiation | ID, epilepsy, language impairment |
| CNTAP4 | ||
| GRIN2B | NMDA receptor subunit | ID, epilepsy |
| NTGN1 | Axon guidance | Bipolar disorder |
| GABRB3 | GABA receptor subunits | Bipolar disorder |
| GABRA5 | ||
| GAD | Conversion of glutamate to GABA | Epilepsy |
| CACNA1C | Voltage-dependent calcium channel subunit | Bipolar disorder, Brugada, and Timothy syndromes |
| SLC25A12 | Mitochondrial membrane, solute channel protein | Mitochondrial disorders |
| OXTR/OXT | Oxytocin receptor/oxytocin gene | Undefined |
| ZNF804A | Transcription regulator of PRSS16, COMT | Bipolar disorders |
Modified by de Lacy and King (9).
ID, intellectual disability.