Table 1.
Monogenic disorders characterized by a high frequency of autism (syndromic forms of autism).
| Gene | Gene Function | Disease | Frequency of Autism in the Disease | Frequency of the Disease in All Autism Cases |
|---|---|---|---|---|
| 1 | 2 | 3 | 4 | 5 |
| FMR1 | Translation repressor | Fragile X syndrome | 15–30% | 2–5% |
| TSC1/2 | mTOR inhibitor | Tuberous sclerosis 1/2 | 25–60% | 1–4% |
| PTEN | PI3K/mTOR signaling pathway inhibitor | Cowden syndrome | No data | 1% |
| NF1 | Ras-GTPase activating protein | Neurofibromatosis 1 | 4% | 0–4% |
| MECP2 | Global translation repressor | Rett syndrome | 100% | 2% |
| UBE3A | E3 ubiquitin ligase | Angelman syndrome | 40% | 1% |
| NLGN3/4 | Synaptic adhesion | Familial ASD | No data | <1% |
| NRXN1 | Synaptic adhesion | Familial ASD | No data | <1% |