| Reference | Patients with ASD, n | De novo mutations, n (%) | Mutations/deletions | Clinical phenotype |
| Durand et al40 | 227 | 3/227 (1.3) | 142 kb del at 22q13, E409X, 800 kb del at 22q13* | Autism with severe language and social deficits |
| Moessner et al41 | 400 | 4/400 (1) | 277 kb del at 22q13, 3.2 Mb del at 22q13,* 4.36 Mb del at 22q13, Q321R | Autism with non-verbal communication and social deficits |
| Total | 627 | 7/627 (1.1) | — | — |
ASD, autistic spectrum disorders.
*Parents have a balanced translocation.