Six at Sixty. Commentary on identification of the PTEN gene as a major contributor to autism spectrum disorder

Butler, M. G. — 2024-12-31T02:12:10-08:00

In 2005, the genetic aetiology of autism was considered elusive. Occasionally individuals with overgrowth disorders and hamartomas including Bannayan-Riley-Ruvalcaba and Proteus or Proteus-like and/or cancer such as Cowden syndrome, an autosomal dominant disorder with a high risk of breast, thyroid and endometrial cancer, were noted to have neuro-behavioural features resembling autism, learning problems and macrocephaly. There was growing evidence that these disorders may have PTEN gene mutations.1 Based on earlier observations of children presenting with overgrowth including macrocephaly, tumours, developmental delay and autistic features in the clinical setting, we undertook PTEN gene mutation analysis in 18 subjects with autism spectrum disorders (ASD) and macrocephaly. These comprised 13 males and five females, prospectively ascertained with an age range of 3–18 years and head circumferences of 2.5–8 SD above the mean. Three of the males with the largest head circumferences were found to have novel germline PTEN mutations.

Journal of Medical Genetics Commentary

Six at Sixty. Commentary on identification of the PTEN gene as a major contributor to autism spectrum disorder