The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly

Original research article by E.A. Varga et al. (2009).

Read the abstract here.

It is well known that the PTEN gene plays an important role in regulating cell division. When this gene is not working properly in children and adults, it can cause overgrowth of certain types of tissues. While variations in the PTEN gene are known to cause a hereditary cancer syndrome called Cowden syndrome, but more recently, damaging variations in the PTEN gene have been identified in children with autism. 114 people with autism spectrum disorder (ASD) or developmental delay/intellectual disability AND a larger than average head size underwent genetic testing. Of this population, eleven were found to have a damaging variation in the PTEN gene. Each of those 11 people also had larger-than-average head sizes, being in the 95thor greater percentile.

Variations in the PTEN gene are known to be associated with a large head circumference (macrocephaly). In people with a large head circumference and developmental delay or features of autism, 8.3-12.2% of this population may have a change in the PTEN gene. This study, therefore, provides evidence that evaluation of the PTEN gene may be warranted in children who have a diagnosis of both macrocephaly and ASD or DD.