PTEN mutation in a family with Cowden syndrome and autism

Am J Med Genet. 2001 Aug 8;105(6):521-4. doi: 10.1002/ajmg.1477.


We report on a mother and son with Cowden syndrome and a PTEN mutation. The boy also exhibits autistic behavior and mental retardation, while his mother has a normal intelligence and social interaction pattern. We review the scanty literature data on the association of Cowden syndrome and autism and emphasize that the association of progressive macrocephaly and pervasive developmental disorder seems to be an indication for screening for PTEN mutations.

Publication types

  • Case Reports

MeSH terms

  • Autistic Disorder / genetics*
  • Autistic Disorder / pathology
  • Child
  • Codon, Nonsense
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Hamartoma Syndrome, Multiple / genetics*
  • Hamartoma Syndrome, Multiple / pathology
  • Humans
  • Male
  • Mutation
  • PTEN Phosphohydrolase
  • Phosphoric Monoester Hydrolases / genetics*
  • Tumor Suppressor Proteins*


  • Codon, Nonsense
  • Tumor Suppressor Proteins
  • DNA
  • Phosphoric Monoester Hydrolases
  • PTEN Phosphohydrolase
  • PTEN protein, human