Table 1. Selected monogenic syndromes* associated with autism spectrum disorder and corresponding genes.
| Syndrome | Mutated gene |
|---|---|
| Fragile-X syndrome | FMR1 |
| Rett syndrome | MECP2 |
| Cowden syndrome | PTEN |
| Neurofibromatosis | NF1 |
| Tuberous sclerosis | TSC1/2 |
| CHARGE syndrome | CHD7 |
| Sotos syndrome | NSD1 |
| Beckwith-Wiedemann syndrome/Silver-Russel syndrome | IGF2 (11p15) |
| Timothy syndrome | CACNA1C |
| Noonan syndrome | PTPN11 |
| Angelman syndrome | UBE3A (15q11-q13) |
| Rubinstein-Taybi syndrome | CREBBP |
| Smith-Magenis syndrome/Potocki-Lupski syndrome | RAI1 |
| Velocardiofacial/DiGeorge syndrome | 22q11 deletion |
| Phelan-McDermid syndrome | 22q13 deletion |
| Duchenne muscular distrophy | DMD |
| Cornelia de Lange syndrome | SMC1A |
Source: Betancur C. Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res. 2011;1380:42-77.Review.(14)
*For a complete list of monogenic syndromes associated to autism spectrum disorder.