Table 5 PTEN and autistic spectrum disorders
ReferencePatients with ASD, n (%)De novo mutations, nMutations/deletionsClinical phenotype
Goffin et al661 (M)0Y178X*Cowden syndrome with autism and progressive macrocephaly
Butler et al6718 (13M,5F) all macrocephalic3/18 (16.6)H93R, D252G, F241SExtreme macrocephaly and macrosomy
Herman et al686971 (57M,14F), including 19 macrocephalic2/71 (2.8); 2/19 macrocephalic (10.5)530 insT; R130XMacrocephaly, autism and developmental delay
Buxbaum et al7088 (76M,12F) all macrocephalic1/88 (1.1)D326NMacrocephaly (+9.6 SD), polydactyly at both feet, autism, MR, language delay
Total126 macrocephalic6/126 (4.7) macrocephalic patients with ASD
  • ASD, autistic spectrum disorders; MR, mental retardation.

  • *Mutation found also in the patient’s mother (Cowden syndrome).