DEAF1

Below is a summary for the DEAF1 gene observed in research publications. This is not meant to take the place of medical advice.

What is DEAF1-related syndrome?

DEAF1-related syndrome happens when there are changes to the DEAF1 gene. These changes can keep the gene from working as it should.

In people who have DEAF1-related syndrome, the DEAF1 gene change usually happens in a specific part of the gene called the “SAND” domain. This part of the gene plays a key role in DEAF1’s ability to control other genes.

Key Role

The DEAF1 gene controls other genes that play a key role in early brain development.

Symptoms

Because the DEAF1 gene is important in the development and function of brain cells, many people who have DEAF1-related syndrome have:

  • Intellectual disability
  • Speech impairment
  • Behavior issues

Do people who have DEAF1-related syndrome look different?

People who have DEAF1-related syndrome do not look very different.

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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 DEAF1.

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Research Article Summaries

We currently do not have any article summaries for DEAF1, but we add resources to our website as they become available.

The information available about DEAF1 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 DEAF1 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 DEAF1 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 DEAF1 families.

Click here to share your family’s story!