AUTS2-Related Syndrome

This guide is not meant to take the place of medical advice. Please consult with your doctor about your genetic results and health care choices. This Gene Guide was last updated on 2024. As new information comes to light with new research we will update this page. You may find it helpful to share this guide with friends and family members or doctors and teachers of the person who has AUTS2-Related Syndrome.
a doctor sees a patient

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 helps the body to develop.


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

  • Learning problems, developmental delay
  • Features of autism
  • Motor delays
  • Speech delays

Our genes contain the instructions, or code, that tell our cells how to grow, develop, and work. Every child gets two copies of the AUTS2 gene: one copy from their mother, from the egg, and one copy from their father, from the sperm. In most cases, parents pass on exact copies of the gene to their child. But the process of copying genes is not perfect. A change in the genetic code can lead to physical issues, developmental issues, or both.

Sometimes a random change happens in the sperm or egg. This change to the genetic code is called a ‘de novo’, or new, change. The child can be the first in the family to have the gene change.

De novo changes can take place in any gene. We all have some de novo changes, most of which don’t affect our health. But because AUTS2 plays a key role in development, de novo changes in this gene can have a meaningful effect.

Research shows that AUTS2 -related syndrome is often the result of a de novo change in AUTS2 . Many parents who have had their genes tested do not have the AUTS2 gene change found in their child who has the syndrome. In some cases, AUTS2 -related syndrome happens because the gene change was passed down from a parent.

Dominant Inheritance

Children have a 50% chance of inheriting the genetic change.

Child who has genetic change in AUTS2 gene

Genetic change occurs in egg or sperm after fertilization
Child with de novo genetic change in autism gene

Why does my child have a change in the AUTS2 gene?

No parent causes their child’s AUTS2-related syndrome. We know this because no parent has any control over the gene changes that they do or do not pass on to their children. Please keep in mind that nothing a parent does before or during the pregnancy causes this to happen. The gene change takes place on its own and cannot be predicted or stopped.

Each family is different. A geneticist or genetic counselor can give you advice on the chance that this will happen again in your family.

The risk of having another child who has AUTS2-related syndrome depends on the genes of both birth parents.

  • If neither birth parent has the same gene change found in their child, the chance of having another child who has the syndrome is on average 1 percent. This 1 percent chance is higher than the chance of the general population. The increase in risk is due to the very unlikely chance that more of the mother’s egg cells or the father’s sperm cells carry the same change in the gene.
  • If one birth parent has the same gene change found in their child, the chance of having another child who has the syndrome is 50 percent.

For a symptom-free sibling, a brother or sister, of someone who has AUTS2-related syndrome, the risk of having a child who has the syndrome depends on the symptom-free sibling’s genes and their parents’ genes.

  • If neither parent has the same gene change found in their child who has the syndrome, the symptom-free sibling has a nearly 0 percent chance of having a child who has AUTS2-related syndrome.
  • If one birth parent has the same gene change found in their child who has the syndrome, the symptom-free sibling has a small chance of also having the same gene change. If the symptom-free sibling has the same gene change as their sibling who has the syndrome, the symptom-free sibling’s chance of having a child who has AUTS2-related syndrome is 50 percent.

For a person who has AUTS2-related syndrome, the risk of having a child who has the syndrome is about 50 percent.

As of 2019, about 50 people in the world with changes in the AUTS2 gene had been described in the medical literature. The first case of AUTS2- related syndrome was described in 2007. Scientists expect to find more people who have the syndrome as access to genetic testing improves.

Most people who have AUTS2-related syndrome don’t look very different from others.

Scientists and doctors have only just begun to study AUTS2-related syndrome. At this point, there are no medicines designed to treat the syndrome. A genetic diagnosis can help people decide on the best way to track the condition and manage therapies. Doctors can refer people to specialists for:

  • Physical exams and brain studies
  • Genetics consults
  • Developmental and behavior studies
  • Other issues, as needed

A developmental pediatrician, neurologist, or psychologist can follow progress over time and can help:

  • Suggest the right therapies. This can include physical, occupational, speech, or behavioral therapy.
  • Guide individualized education plans (IEPs).

Specialists advise that therapies for AUTS2-related syndrome should begin as early as possible, ideally before a child begins school.

If seizures happen, consult a neurologist. There are many types of seizures, and not all types are easy to spot. To learn more, you can refer to resources such as the Epilepsy Foundation’s website:

This section includes a summary of information from a published article describing 13 people with the syndrome. It highlights how many people have different symptoms. To learn more about the article, see the Sources and references section of this guide.


Everyone in one small study had learning problems or developmental delay, or both.

  • 8 out of 13 people had mild intellectual disability.
  • 5 out of 13 had moderate intellectual disability.


Many people have some signs of autism spectrum disorder. These signs can include repeated movements and special interests.

  • 80 percent of people have signs of autism.


Some people have seizures. In one study, two of 11 people who had AUTS2-related syndrome had seizures.


Most people are short.

Feeding and digestion issues

Some people have feeding problems. This can range from issues with breastfeeding as babies to more severe problems. Some require a feeding tube. In the first year of life, some children vomit easily.

Muscle tone

  • 7 out of 13 people had stiff muscles that are hard to move.

Other motor concerns

Most have some motor delays. About one-half have quick reflexes in their arms and legs. They tend to walk on their toes and can have tight Achilles tendons.

Where can I find support and resources?

AUTS2 Syndrome – Promoting Research Facebook Group

Simons Searchlight is another research program sponsored and run by the Simons Foundation Autism Research Initiative, also known as SFARI. As part of the next step in your research journey, Simons Searchlight offers you the opportunity to partner with scientists and other families who have the same gene change. Simons Searchlight is a registry for more than 200 genetic changes that are associated with neurodevelopmental conditions, including autism spectrum disorder. Simons Searchlight makes it easier for researchers to access the information they need to advance research on a condition. To register for Simons Searchlight, go to the Simons Searchlight website at and click “Join Us Today”.

Learn more about Simons Searchlight

Simons Searchlight webpage with more information on AUTS2

Simons Searchlight AUTS2 Facebook community

Sources and References

The content in this guide comes from a published study about AUTS2-related syndrome. Below you can find details about the study, as well as a link to a summary.

  • Beunders G. et al. Journal of Medical Genetics, 53, 523-532, (2016). A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype