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The information for this summary of 15q13.3 deletion syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full 15q13.3 Deletion Gene Guide
The online Gene Guide includes more information about 15q13.3 deletion such as the chance of having another child with this condition, behavior and development concerns linked to 15q13.3 deletion or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
15q13.3 deletion syndrome is also called 15q13.3 microdeletion. For this webpage, we will be using the name 15q13.3 deletion syndrome to encompass the wide range of variants observed in the people identified.
What is 15q13.3 microdeletion syndrome?
15q13.3 deletion syndrome happens when a person is missing a piece of chromosome 15, one of the body’s 46 chromosomes. Chromosomes are structures in our cells that house our genes. The missing piece can affect learning and how the body develops.
Key Role
The 15q13.3 region on chromosome 15 includes seven genes. Researchers are still trying to learn more about what the genes in this region do. One study suggests that one of the genes called OTUD7A is important for brain function.
Symptoms
Because the 15q13.3 region is important for brain activity, many people who have 15q13.3 deletion syndrome have:
- Developmental delay, or intellectual disability, or both
- Autism spectrum disorder or features of autism
- Other behavioral issues, including attention-deficit/hyperactivity disorder (ADHD), aggression, and rage
- Seizures or an abnormal electroencephalogram, also called EEG (a test that measures the brain’s electrical activity)
- Speech and language delay
- Schizophrenia
- Mood disorders
- Lower than average muscle tone
How many people have 15q13.3 deletion syndrome?
As of 2024, more than 200 people with 15q13.3 deletion syndrome have been identified in a medical clinic. The first case of 15q13.3 deletion syndrome was described in 2008.
Support Resources
- Simons Searchlight Community – 15q13.3 Deletion Facebook group
GeneReviews
Gene Reviews 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 15q13.3 Deletions.
Research Article Summaries
We currently do not have any article summaries for 15q13.3 Deletion, but we add resources to our website as they become available.
The information available about 15q13.3 Deletion 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 15q13.3 Deletion articles can be found here.
You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about 15q13.3 Deletion genetic changes by taking part in our research. You can learn more about the project and sign up here.