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 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.

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To view past registry reports go to the bottom of this page and click on the dropdown menu tab labeled “Previous Registry Reports.”

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.

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

Do people who have ARID1B-related syndrome look different?

People who have ARID1B-related syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Excessive hair on different parts of the body: 75%
  • Thick eyebrows: 68%
  • Thinning hair on the scalp: 50%
  • Short height: 20%
Learning

Everyone who has ARID1B-related syndrome has some degree of intellectual disability.

Speech

About 80 percent have speech delay.

Behavior

About 80 percent have behavior issues. Of those, about 50 percent have autism and 25 percent have ADHD.

 

Sitting and Walking

Almost everyone who has ARID1B-related syndrome has motor delays.

 

Muscle tone

About 80 percent have low muscle tone.

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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!