Genomic Studies of Developmental and Cognitive Aspects of PTEN Disorders :: Nationwide Children's Hospital

Genomic Studies of Developmental and Cognitive Aspects of PTEN Disorders

Please note that recruitment has closed for this study.

We invite you to be in a research study called the “Genomic Studies of Developmental and Cognitive Aspects of PTEN Disorders” if you, your child or another family member has been diagnosed with a change (mutation) in the PTEN gene.

What is the purpose of this study?
Changes (mutations) in the PTEN gene can lead to a variety of different symptoms or problems, such as a large head size, developmental delay and learning problems, non-cancerous tumors and other skin findings, and in some cases, an increased risk for specific cancers in adults.  Right now, it is not clear why some people with gene changes in PTEN have some symptoms, but not others.  We hope to understand how changes in other genes in the body might interact with PTEN to cause certain symptoms, particularly a large head size and/or developmental delays.

Some people with PTEN gene changes also have autism spectrum disorders (ASD).  If you or your child has been diagnosed with an ASD and you live in Ohio, we will also offer you the chance to enroll in another research study we are conducting called the Central Ohio Registry for Autism (CORA).  Families living outside of Ohio will be asked to give permission so that we can obtain medical records to confirm the ASD diagnosis.
How can my family participate?
To participate, you or your child must have a clinically confirmed change (mutation) in the PTEN gene.  You must be willing to give consent (for you and/or your child), provide information about your medical and family history and/or give us permission to obtain medical records.  Your child and both biological parents (if available) must also agree to donate a small amount of blood.  When available, we also like to enroll siblings.  If your child has an ASD diagnosis, we may ask that you complete some additional psychological testing.

Who will be in this study?
Most families will come from Nationwide Children’s Hospital in Columbus, OH.  We hope to enroll at least 25 families for a total of 100 participants.

What types of research projects are being done?
Currently, we are performing exome sequencing (sequencing the information containing regions of most of the known genes) to identify if there are changes in other genes that interact with the PTEN gene.  Our hope is to be able to identify other genes that may help predict which individuals with a PTEN change will develop a large head size and developmental delays or autism spectrum disorders versus those individuals with a large head size only. Research results are generally not released to families.

Who is doing this research?
The research study is being conducted by Dr. Gail E. Herman at Nationwide Children’s Hospital Research Institute in Columbus, OH.  The study coordinator is Emily Hansen.
Are there any costs associated with participating?
It will not cost you anything to be in this study.  You will not be paid to be in this study.


Nationwide Children's Hospital
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