ARID1B

Below is a summary of the ARID1B gene observed in 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.

Latest ARID1B Report | Download Report

This latest report includes updated information about Simons Searchlight participants with ARID1B-related syndrome using insights by families like yours. This report features a special spotlight on behavioral and emotional concerns in children using results from the Child Behavior Checklist (CBCL).

Please take our surveys to contribute to this research. If you are not yet registered, consider joining Simons Searchlight to be included in future reports!

View all reports below by clicking on “Previous Registry Reports” at the bottom of this page.

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-related syndrome is also called Coffin-Siris Syndrome 1.

Key Role

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

Symptoms

Because the ARID1B gene is important in the development and function of brain cells, many people who have ARID1B-related syndrome have:

  • Intellectual disability
  • Behavior issues, including autism and attention deficit hyperactivity disorder, also known as ADHD
  • Seizures
  • Feeding difficulties
  • Hearing issues

How many people have ARID1B-related syndrome?

As of 2019, about 65 people in the world with changes in the ARID1B gene had been described in the medical literature. 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.

Genetic variants in ARID1B

You may have seen reports of people with cancer having genetic variations in ARID1B. In general, genetic variants that are linked to ARID1B-related syndrome are different from genetic variants that are associated with cancer. Genetic variants that are linked to ARID1B-related syndrome do not increase the risk of cancer in a person.

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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.

Check out the GeneReviews for  ARID1B .

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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.

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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.

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Family Stories

Stories from  ARID1B  families:

Click here to share your family’s story!