Alternate Gene Names: PTEN1, MMAC1
Associated syndromes or conditions: PTEN Hamartoma Tumor syndrome, Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Macrocephaly/autism syndrome
Genomic Location: 10q23.31

Diagnoses observed in people with changes in the PTEN gene:

  • Autism Spectrum Disorder - Yes
  • Intellectual Disability or Developmental Delay - Yes
  • Epilepsy or Seizures - Yes
  • Attention Deficit Hyperactivity Disorder - Yes
  • Schizophrenia - No
  • Bipolar Disorder - No

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Research Opportunities:

In addition to the opportunity to particpate in research with Simons VIP, you may be interested in other opportunties.


Research Article Summaries:

Below, we've summarized several research articles that include information about PTEN. We hope you find this information helpful! As we learn more from children who have these gene changes, we expect this list of resources and information to grow.

  • Marchese et al., 2014 - Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening
    The authors suggest that children who have autism spectrum disorder (ASD) and a larger-than-average head circumference, identified before age 1, may be more likely to develop autism than children with an average sized head circumference. This study examines the relationship between mutations, or damaging variations, in the PTEN gene and a diagnosis of autism or autism with epilepsy.

    In this study, 81 individuals participated in genetic testing for two genes: PTEN and GLIALCAM. Of the 81 children, none had identifiable GLICALCAM mutations. One child, with a head circumference greater than the 99th percentile, was identified to have a mutation in the PTEN gene. The features described in this individual were: low muscle tone, absent/delayed speech, moderate intellectual disability, and behavior differences like frustration intolerance and aggression. In addition, this patient had his first seizure at approximately age 5.
  • O'Roak et al., 2012 (Nature) - Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
    Whole exome sequencing was performed for 209 families (677 individuals) who had participated in the Simons Simplex Collection (SSC). The SSC study included children with autism and intellectual disability. This study identified over 100 new candidate genes related to developmental delay, intellectual disability and/or features of autism. Initially, mutations in only two genes – CHD8 and NTNG1 - were found in more than one person, and further analysis of six specific genes (FOXP1, GRIN2B, LAMC3, SCN1A, FOXP2 and GRIN2A)  found additional mutations in three of those genes – GRIN2B, LAMC3 and SCN1A - suggesting that there are many genetic causes of autism and intellectual disability.

    Through whole exome sequencing, one patient was found to have a damaging variant in the PTEN gene. This variant is believed to be de novo, which means that it was not inherited from either parent. No damaging variants were identified in over 3000 control samples.
  • O'Roak et al., 2012 (Science) - Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
    n this study, 2,494 samples from the Simon Simplex Collection (SSC) were used to look for 44 genes that have been associated with autism.  The SSC study included children with autism and intellectual disability. This study identified 27 de novo (not inherited from a parent) gene changes in 16 genes, including 3 patients with variants in PTEN who were observed to have significantly smaller head sizes (microcephaly).

    The individuals with PTEN mutations in this study had differences in behavior, attention, and social skills. All individuals had sleep problems. There was a range of differences in intellectual disability, ranging from mild to severe. Two individuals had a history of recurrent infections, and one had GI problems.
  • Varga et al. 2009 - The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly
    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 patients 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 patients 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 individuals 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.

You can also visit SFARI's website to see information for researchers about this gene. SFARIgene: PTEN

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