POGZ

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

Click here for our full POGZ Gene Guide 

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

POGZ-related syndrome is also called White-Sutton syndrome. For this webpage, we will be using the name POGZ-related syndrome to encompass the wide range of variants observed in the people identified.

What is POGZ-related syndrome?

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

Key Role

The POGZ gene plays a role in brain development.

Symptoms

Because the POGZ gene is important in brain development and function, many people who have POGZ-related syndrome have:

  • Feeding difficulties
  • Lower than average muscle tone
  • Smaller than average head size
  • Sleeping issues
  • Developmental delay
  • Intellectual disability
  • Features of autism
  • Self-injurious behavior
  • Vision issues

How many people have POGZ-related syndrome?

As of 2024, at least 162 people with POGZ-related syndrome have been identified in a medical clinic.

Learn more about the POGZ 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.

Click here for the POGZ GeneReview

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Research Articles and References

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

The information available about POGZ 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.

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 POGZ articles can be found here.

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

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Research Opportunities

Simons Searchlight

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

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Family Stories

We do not currently have any stories from POGZ families.

Click here to share your family’s story!