ARID1B

The information for this summary of ARID1B-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full ARID1B Gene Guide

The online Gene Guide includes more information about ARID1B such as the chance of having another child with this condition, behavior and development concerns linked to ARID1B-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

ARID1B-related syndrome is also called Coffin-Siris syndrome 1. For this webpage, we will be using the name ARID1B-related syndrome to encompass the wide range of variants observed in the people identified.

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What is ARID1B-related syndrome?

ARID1B-related syndrome happens when there are changes to the ARID1B gene. These changes can keep the gene from working as it should.

ARID1B is a Coffin-Siris gene. Coffin-Siris syndrome can be caused by variants in the following genes: ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCC2, and SMARCE1.

Key Role

The ARID1B gene helps to control other genes that are important for brain growth.

Symptoms

Because the ARID1B gene is important for brain activity, many people who have ARID1B-related syndrome have:

Developmental delay
Intellectual disability
Speech and language delays
Behavior issues, including autism and attention-deficit/hyperactivity disorder (ADHD)
Seizures
Brain changes seen on magnetic resonance imaging (MRI)
Low muscle tone
Feeding difficulties
Hearing issues
Impairment of vision

How many people have ARID1B-related syndrome?

As of 2026, about 640 people in the world with changes in the ARID1B gene have been identified in a medical clinic. The first case of ARID1B-related syndrome was described in 2012. Scientists expect to find more people who have the syndrome as access to genetic testing improves.

Support Resources

Simons Searchlight Community – ARID1B Facebook group
Coffin-Siris Syndrome Foundation – Coffin-Siris.org
– CSS Facebook Group – Facebook page
– CSS Facebook Moms Facebook Group – Facebook page
Foundation for ARID1B Research – ARID1B.org
Unique – ARID1B Guidebook
NORD – Coffin-Siris Syndrome
Geisinger Developmental Brain Disorder Gene Database – ARID1B
NDD GeneHub – ARID1B
SFARI Gene – ARID1B website

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.

Check out the GeneReviews for ARID1B.

Research Article Summaries

Below, we have summarized research articles about changes in the ARID1B gene. We hope you find this information helpful.

The information available about ARID1B is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this 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 ARID1B articles can be found here.

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

The usefulness of whole-exome sequencing in routine clinical practice

Original research article by A. Iglesias et al. (2014).

Read the article here and the Simons Searchlight summary here.

Clinical whole-exome sequencing for the diagnosis of Mendelian disorders

Original research article by Y. Yang et al. (2013).

Read the article here and the Simons Searchlight summary here.

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

Original research article by G.W. Santen et al. (2012).

Read the abstract here and the Simons Searchlight summary here.

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

Original research article by B.J. O’Roak et al. (2012).

Read the abstract here and the Simons Searchlight summary here.

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

Original research article by C. Halgren et al. (2012).

Read the abstract here and the Simons Searchlight summary here.

Haploinsufficiency of ARID1B, a member of the SWI/SNF-A chromatin-remodeling complex, is a frequent cause of intellectual disability

Original research article by J. Hoyer et al. (2012).

Read the abstract here and the Simons Searchlight summary here.

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about ARID1B genetic changes by taking part in our research. You can learn more about the project and sign up here.

TIGER Study

The University of Washington’s Autism Center seeks to better understand the medical, learning, and behavioral features of people with changes in ARID1B. *This study is not affiliated with Simons Searchlight. Click here to learn more about this opportunity.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.