GIGYF1

The information for this summary of GIGYF1-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full GIGYF1 Gene Guide

The online Gene Guide includes more information about GIGYF1 such as the chance of having another child with this condition, behavior and development concerns linked to GIGYF1-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

What is GIGYF1-related syndrome?

GIGYF1-related syndrome happens when there are changes in the GIGYF1 gene. These changes can keep the gene from working as it should.

Key Role

We can tell you that GIGYF1 plays an important role in brain development and is associated with autism. The gene is also likely associated with language and learning.

Symptoms

Because the GIGYF1 gene is important in brain development and function, people who have GIGYF1-related syndrome have:

  • Autism
  • Intellectual disability
  • Speech delay

How many people have GIGYF1-related syndrome?

As of 2024, at least 67 people with GIGYF1-related syndrome have been identified in medical research. The first case of this condition was described in 2014.

Learn more about the GIGYF1 gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

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Research Article Summaries

We currently do not have any article summaries for GIGYF1, but we add resources to our website as they become available.

The information available about GIGYF1 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 GIGYF1 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 GIGYF1 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 GIGYF1 families.

Click here to share your family’s story!