| Reference | Patients with ASD, n (%) | De novo mutations, n | Mutations/deletions | Clinical phenotype |
| Goffin et al66 | 1 (M) | 0 | Y178X* | Cowden syndrome with autism and progressive macrocephaly |
| Butler et al67 | 18 (13M,5F) all macrocephalic | 3/18 (16.6) | H93R, D252G, F241S | Extreme macrocephaly and macrosomy |
| Herman et al6869 | 71 (57M,14F), including 19 macrocephalic | 2/71 (2.8); 2/19 macrocephalic (10.5) | 530 insT; R130X | Macrocephaly, autism and developmental delay |
| Buxbaum et al70 | 88 (76M,12F) all macrocephalic | 1/88 (1.1) | D326N | Macrocephaly (+9.6 SD), polydactyly at both feet, autism, MR, language delay |
| Total | 126 macrocephalic | 6/126 (4.7) macrocephalic patients with ASD |
ASD, autistic spectrum disorders; MR, mental retardation.
*Mutation found also in the patient’s mother (Cowden syndrome).