Below is a summary of the ARID1B gene observed in research publications. This is not meant to take the place of medical advice.
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.
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).
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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.
The ARID1B gene helps to control other genes that are important for brain growth.
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
- 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.
Research Article Summaries
Previous Registry Reports