PTEN

Learn more about the PTEN gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

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GeneReviews

GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

Check out the GeneReview for PTEN.

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Research Article Summaries

Below, we have summarized research articles about changes in the PTEN gene. We hope you find this information helpful.

The information available about PTEN is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this list of resources and information to grow.

You can also visit the Simons Foundation ’s SFARI Gene website to see information for researchers about this gene.

 

Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening

Original research article by M. Marchese et al. (2014).

Read the abstract here and the Simons Searchlight summary here.

 

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Original research article by B.J. O’Roak et al. (2012).

Read the abstract here and the Simons Searchlight summary here.

 

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

Original research article by B.J. O’Roak et al. (2012).

Read the abstract here and the Simons Searchlight summary here.

 

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 and the Simons Searchlight summary here.

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about PTEN genetic changes by taking part in our research. You can learn more about the project and sign up here.


TIGER Study

The University of Washington’s Autism Center seeks to better understand the medical, learning, and behavioral features of people with changes in PTEN.

Click here to learn more about this opportunity.


Cleveland Clinic’s PTEN Study

Click here to learn more!


PTEN Natural History Study

This study is enrolling individuals between the ages of 3 and 21 years old with PTEN hamartoma tumor syndrome for a new study. The goal of this study is to gain a better understanding of PTEN mutation syndromes to identify early markers and ultimately effective interventions for autism spectrum disorder.

Click here to learn more!

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Family Stories

We do not currently have any stories from PTEN families.

Click here to share your family’s story!