AUTS2

The information for this summary of AUTS2-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full AUTS2 Gene Guide

The online Gene Guide includes more information about AUTS2 such as the chance of having another child with this condition, behavior and development concerns linked to AUTS2-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

AUTS2-related syndrome is also called intellectual developmental disorder, autosomal dominant 26. For this webpage, we will be using the name AUTS2-related syndrome to encompass the wide range of variants observed in the people identified.

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What is AUTS2-related syndrome?

AUTS2-related syndrome happens when there are changes to the AUTS2 gene. These changes can keep the gene from working as it should.

Key Role

The AUTS2 gene plays a role in brain cell regulation and growth.

Symptoms

Because the AUTS2 gene is important in brain development and function, many people who have AUTS2-related syndrome have:

Learning issues, developmental delay
Features of autism
Motor delays
Speech delays
Attention deficit hyperactivity disorder, or ADHD
Feeding difficulties
Lower than average muscle tone
Smaller than average head size
Movement issues

How many people have AUTS2-related syndrome?

As of 2024, at least 112 people with AUTS2-related syndrome have been identified in a medical clinic. The first case of AUTS2– related syndrome was described in 2007.

Support Resources

Simons Searchlight Community – AUTS2 Facebook group
Geisinger Developmental Brain Disorder Gene Database – AUTS2
AUTS2 Syndrome- Promoting Research Facebook Group

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 AUTS2.

Research Article Summaries

We currently do not have any article summaries for AUTS2, but we add resources to our website as they become available.

The information available about AUTS2 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 AUTS2 articles can be found here.

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

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about AUTS2 genetic changes by taking part in our research. You can learn more about the project and sign up here.