Below is a summary for the SMARCC2 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.
What is SMARCC2-related syndrome?
SMARCC2-related syndrome happens when there are changes to the SMARCC2 gene. These changes can keep the gene from working as it should.
SMARCC2-related syndrome is similar to other syndromes that are caused by related genetic pathways:
- Coffin-Siris syndrome, which is caused by changes in the genes ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, and SMARCE1.
- Nicolaides-Baraitser syndrome, which is caused by changes in the gene SMARCA2.
SMARCC2 plays a key role in how the brain and body develop.
Many people who have SMARCC2-related syndrome have:
- Developmental delay and intellectual disability
- Speech challenges that may be severe
- Low muscle tone
- Feeding difficulties
- Behavioral concerns, such as autism
- Differences in physical appearance
Do people who have SMARCC2-related syndrome look different?
People who have SMARCC2-related syndrome may look different. A study of 15 people who have the syndrome found that appearance varies and can include some but not all of these features:
- Extra body hair (6/15)
- Thick eyebrows and bony ridges above the eyes (6/15)
- Thin upper or thick lower lip (6/15 and 5/15, respectively)
- Upturned nose (6/15)
How many people have SMARCC2-related syndrome?
As of 2019, medical literature had found about 15 people in the world with changes in the SMARCC2 gene.
13 out of 15 have low muscle tone. Two people have high tone, or overly tight or flexed muscles.
8 out of 15 have feeding challenges.
All have some intellectual disability or developmental disability.
Learn more about the SMARCC2 gene and connect with other Simons Searchlight families with the resources below:
- Simons Searchlight Community – SMARCC2 Facebook group
- Geisinger Developmental Brain Disorder Gene Database – SMARCC2
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 SMARCC2.
Research Article Summaries
Below, we have included research articles about changes in the SMARCC2 gene. We hope you find this information helpful.
The information available about SMARCC2 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 SMARCC2 articles can be found here.
You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
Expanding the spectrum of BAF-related disorders: de novo variants in SMARCC2 cause a syndrome with intellectual disability and developmental delay
Original research article by K. Machol et al. (2019).
Read the abstract here.
Help the Simons Searchlight team learn more about SMARCC2 genetic changes by taking part in our research. You can learn more about the project and sign up here.
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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