SMARCA4

Below is a summary for the SMARCA4 gene observed in research publications. This is not meant to take the place of medical advice.

What is Coffin-Siris syndrome?

Coffin-Siris syndrome happens when there are changes in one of several genes, including ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1, and SOX11. These changes can keep the genes from working as they should.

Key Role

The genes linked to Coffin-Siris syndrome each provide instructions for making one piece of a very important structure inside the cell, called the SWI/SNF protein complex. This structure helps to control other genes during development.

Symptoms

Because these genes are important in development, many people who have Coffin-Siris syndrome have:

  • Changes in physical appearance
  • Intellectual disability
  • Motor delays
  • Language impairments

Do people who have Coffin-Siris syndrome look different?

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

  • Skeleton: Certain fingers and toes, most often the fifth finger and toe, may be unusually short. In some people, the inner forearm bone, or radius, may be out of place at the elbow. The connection between the hip and thighbones may be misshaped. Some people may have very small or absent kneecaps.
  • Facial features: Some people have unusually large or small heads, a wide mouth with full lips, a broad nasal tip, a low nasal bridge, and a long vertical groove between the nose and the upper lip.
  • Other features may include thick eyebrows, long eyelashes, and excessive hair growth, also called hypertrichosis, except on the scalp where hair tends to be thin.

Learn more about SMARCA4 (previously known as BAF190)and connect with other Simons Searchlight families with the resources below.

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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.

There is currently no GeneReviews for Coffin-Siris syndrome.

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Research Article Summaries

We currently do not have any article summaries for SMARCA4, but we add resources to our website as they become available.

The information available about SMARCA4 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 SMARCA4 articles can be found here.

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

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about SMARCA4 genetic changes by taking part in our research. You can learn more about the project and sign up here.

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Family Stories

We do not currently have any stories from SMARCA4 families.

Click here to share your family’s story!