YY1

The information for this summary of YY1-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full YY1 Gene Guide

The online Gene Guide includes more information about YY1 such as the chance of having another child with this condition, behavior and development concerns linked to YY1-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

YY1-related syndrome is also called Gabriele-de Vries syndrome. For this webpage, we will be using the name YY1-related syndrome to encompass the wide range of variants observed in the people identified.

What is YY1-related syndrome?

YY1-related syndrome happens when there are changes in the YY1 gene. These changes can keep the gene from working as it should.

Key Role

YY1 plays different roles in the body, including in development before birth and in the development, growth, and division of cells.

Symptoms

Because the YY1 gene is important for brain activity, many people who have YY1-related syndrome have:

  • Developmental delay
  • Intellectual disability
  • Attention-deficit/hyperactivity disorder (ADHD)
  • Anxiety disorders
  • Autism spectrum disorder
  • Speech delay
  • Walking defects
  • Brain changes seen on magnetic resonance imaging (MRI)

How many people have YY1-related syndrome?

As of 2024, at least 37 people with YY1-related syndrome have been identified in a medical clinic.

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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.

There is currently no GeneReviews for YY1.

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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.

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Research Opportunities

Simons Searchlight

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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Family Stories

We do not currently have any stories from YY1 families.

Click here to share your family’s story!