KANSL1

The information for this summary of KANSL1-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our KANSL1 Gene Guide

The online Gene Guide includes more information about KANSL1 such as the chance of having another child with this condition, behavior and development concerns linked to KANSL1-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

KANSL1-related syndrome is also called Koolen-de Vries syndrome. For this webpage, we will be using the name KANSL1-related syndrome to encompass the wide range of variants observed in the people identified.

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What is KANSL1-related syndrome?

KANSL1-related syndrome happens when there are changes in the KANSL1 gene. These changes can keep the gene from working as it should. 

Some people have a change that affects only the KANSL1 gene. Other people are missing a larger piece of DNA that includes the KANSL1 gene. 

KANSL1-related syndrome is also called 17q21 deletion syndrome because the KANSL1 gene is found on chromosome 17, one of the body’s 46 chromosomes. Both syndromes share the same set of symptoms. These syndromes are also known as Koolen-de Vries syndrome.

Key Role

The KANSL1 gene helps to control other genes during brain development. 

Symptoms

Because the KANSL1 gene is important for brain activity, many people who have KANSL1-related syndrome have: 

  • Developmental delay 
  • Intellectual disability 
  • Low muscle tone 
  • Speech and language issues 
  • Features of autism 
  • Hyperactivity 
  • Anxiety 
  • Seizures 
  • Brain changes observed on magnetic resonance imaging (MRI)
  • Heart or kidney defects

How many people KANSL1-related syndrome?

As of 2024, over 156 people with KANSL1-related syndrome have been identified in a medical clinic. This includes people with pathogenic or likely pathogenic variants in KANSL1 and people with large deletions that include KANSL1. 

Learn more about the KANSL1 gene 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.

Check out the GeneReview for KANSL1.

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Research Article Summaries

We currently do not have any article summaries for KANSL1, but we add resources to our website as they become available.

The information available about KANSL1 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 KANSL1 articles can be found here.

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about KANSL1 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 KANSL1 families.

Click here to share your family’s story!

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Previous Quarterly Reports