Table 2 SHANK3 and autistic spectrum disorders
ReferencePatients with ASD, nDe novo mutations, n (%)Mutations/deletionsClinical phenotype
Durand et al402273/227 (1.3)142 kb del at 22q13, E409X, 800 kb del at 22q13*Autism with severe language and social deficits
Moessner et al414004/400 (1)277 kb del at 22q13, 3.2 Mb del at 22q13,* 4.36 Mb del at 22q13, Q321RAutism with non-verbal communication and social deficits
Total6277/627 (1.1)
  • ASD, autistic spectrum disorders.

  • *Parents have a balanced translocation.