Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly

Am J Med Genet A. 2007 Mar 15;143A(6):589-93. doi: 10.1002/ajmg.a.31619.


Recently, Butler et al. [2005; J Med Genet 42:318-321] reported the presence of heterozygous germline mutations in the PTEN tumor suppressor gene in three children with autism and macrocephaly. Here, we report the presence of PTEN mutations in two additional unrelated children with macrocephaly and autism. Our findings extend those of Butler et al. and suggest that PTEN gene sequencing should be included in the genetic evaluation of this subset of autistic individuals.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Abnormalities, Multiple / psychology
  • Autistic Disorder / pathology*
  • Child, Preschool
  • Craniofacial Abnormalities*
  • DNA Mutational Analysis
  • Female
  • Germ-Line Mutation*
  • Humans
  • Learning Disabilities / psychology
  • Male
  • PTEN Phosphohydrolase / genetics*


  • PTEN Phosphohydrolase
  • PTEN protein, human