17q21.31 Deletion
Below is a summary for 17q21.31 deletion syndrome or Koolen-de Vries syndrome observed in research publications. This is not meant to take the place of medical advice.
Click here for our full 17q21.31 Deletion Gene Guide
The online Gene Guide includes more information about 17q21.31 deletion syndrome such as the chance of having another child with this condition, behavior and development concerns linked to 17q21.31 deletion syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
17q21.31 deletion syndrome is also called Koolen-de Vries syndrome. For this webpage, we will be using the name 17q21.31 deletion syndrome to encompass the wide range of variants observed in the people identified.
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What is 17q21.31 deletion syndrome or Koolen-de Vries syndrome?
17q21.31 deletion syndrome happens when a person is missing a piece of chromosome 17, 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.
17q21.31 deletion syndrome is caused by a deletion in the KANSL1 gene, which is missing when a person has a 17q21.31 deletion. Both 17q21.31 deletion syndrome and KANSL1-related syndrome share the same set of symptoms.
Key Role
The KANSL1 gene in the 17q21.31 region helps to control other genes during brain development.
Symptoms
Because the 17q21.31 region is important for brain activity, many people who have 17q21.31 deletion syndrome have:
- Developmental delay
- Intellectual disability
- Low muscle tone
- Speech and language issues
- Features of autism
- Hyperactivity
- Anxiety
- Seizures
- Brain changes seen on magnetic resonance imaging (MRI)
- Heart or kidney defects
How many people have 17q21.31 deletion syndrome?
As of 2024, over 156 people with 17q21.31 deletion syndrome have been identified in a medical clinic. This includes people with pathogenic or likely pathogenic variants in the KANSL1 gene and people with large deletions that include the KANSL1 gene.
Support Resources
- Simons Searchlight Community – 17q21.31 Deletion Facebook group
- Koolen-De Vries Syndrome Foundation Website – KVDSfoundation.org
– Koolen-De Vries Syndrome Foundation – Facebook page
– Koolen-De Vries Syndrome Foundation – Facebook group - Unique – 17q21.31 Deletion
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 17q21.31 Deletions.
Research Article Summaries
We currently do not have any article summaries for 17q21.31 Deletion, but we add resources to our website as they become available.
The information available about 17q21.31 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 17q21.31 Deletion articles can be found here.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about 17q21.31 Deletion genetic changes by taking part in our research. You can learn more about the project and sign up here.
Family Stories
We do not currently have any stories from 17q21.31 Deletion families.
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