IQSEC2

Below is a summary for the IQSEC2 gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.

What is IQSEC2-related syndrome?

IQSEC2-related syndrome happens when there are changes to the IQSEC2 gene. These changes can keep the gene from working as it should.

Key Role

The IQSEC2 gene plays a key role in brain cell growth and communication between brain cells.

Symptoms

Because the IQSEC2 gene is important in the development and function of brain cells, many people who have IQSEC2-related syndrome have:

Intellectual disability
Seizures
Autism

Do people who have IQSEC2-related syndrome look different?

People who have IQSEC2-related syndrome may look different. Appearance can vary and can include some but not all of these features:

Small head
Changes in head shape

How many people have IQSEC2-related syndrome?

As of 2020, more than 130 people in the world with changes in the IQSEC2 gene had been described in the medical literature.

Symptoms of IQSEC2-related syndrome vary based on sex and whether the gene change is inherited or new.

Keep reading below to learn more!

In males with inherited IQSEC2 changes:

30% have seizures

28% have autism or features of autism

20% have speech issues

In males with new, or de novo, IQSEC2 changes:

90% have seizures

87% have speech issues

34% have autism or features of autism

In females with inherited IQSEC2 changes:

27% have seizures

22% have speech issues

9% have autism or features of autism

In females with new, or de novo, IQSEC2 changes:

72% have seizures

66% have speech issues

36% have autism or features of autism

Support Resources

Simons Searchlight Community – IQSEC2 Facebook group
Geisinger Developmental Brain Disorder Gene Database – IQSEC2

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 IQSEC2.

Research Article Summaries

We currently do not have any article summaries for IQSEC2, but we add resources to our website as they become available.

The information available about IQSEC2 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 IQSEC2 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 IQSEC2 genetic changes by taking part in our research. You can learn more about the project and sign up here.

Family Stories

We do not currently have any stories from IQSEC2 families.

Click here to share your family’s story!