Learn more about YY1 and connect with other Simons Searchlight families with the resources below.
What is YY1-related syndrome?
YY1-related syndrome happens when there are changes to the YY1 gene. These changes can keep the gene from working as it should. YY1-related syndrome is also called Gabriele-de Vries syndrome.
YY1 plays different roles in the body, including in development before birth and in the development, growth, and division of cells.
Because the YY1 gene is important in development, many people who have YY1-related syndrome have:
- Developmental delay
- Intellectual disability
- Attention Deficit Hyperactivity Disorder, or ADHD
- Anxiety disorders
- Autism spectrum disorder
Do people with YY1-related syndrome look different?
People who have YY1-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Broad forehead
- Fullness in the upper eyelids
- A round nose
- Pointed chin
- Tooth defects
- Simons Searchlight Community – YY1 Facebook group
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.
There is currently no GeneReviews for YY1.
Research Article Summaries
We currently do not have any article summaries for YY1, but we add resources to our website as they become available.
The information available about YY1 is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.
Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for YY1 articles can be found here.
Help the Simons Searchlight team learn more about YY1 genetic changes by taking part in our research. You can learn more about the project and sign up here.
External Research Opportunity: FaceMatch
FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.
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