CSNK2A1

Below is a summary for the CSNK2A1 gene observed in research publications. is is not meant to take the place of medical advice.

Click here for our full CSNK2A1 Gene Guide

The online Gene Guide includes more information about CSNK2A1 such as the chance of having another child with this condition, behavior and development concerns linked to CSNK2A1-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

CSNK2A1-related syndrome is also called Okur-Chung neurodevelopmental syndrome (OCNDS). For this webpage, we will be using the name CSNK2A1-related syndrome to encompass the wide range of variants observed in the people identified.

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What is CSNK2A1-related syndrome?

CSNK2A1-related syndrome happens when there are changes to the CSNK2A1 gene. These changes can keep the gene from working as it should.

Key Role

The CSNK2A1 gene plays different roles in the body, including helping to control the birth of new cells and helping to control the day to night cycle of cells.

Symptoms

Because the CSNK2A1 gene is important in the development and function of brain cells, many people who have CSNK2A1-related syndrome have:

  • Intellectual disability
  • Feeding difficulties, gastric reflux, and constipation
  • Global developmental delay
  • Delayed speech, poor or absent speech
  • Behavior issues and temper tantrums
  • Attention deficit hyperactivity disorder, or ADHD
  • Immunodeficiencies, in some people

How many people have CSNK2A1-related syndrome?

As of 2024, at least 65 people with CSNK2A1-related syndrome have been identified in a medical clinic.

Learn more about the CSNK2A1 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 GeneReviews for Okur-Chung Neurodevelopmental Syndrome.

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Presentations

Simons Searchlight Family Research Conference 2022 Registry Update

Registry Update Slide Deck

Simons Searchlight Family & Research Conference 2021 CSNK2A1 Virtual Conference

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Simons Searchlight Family & Research Conference 2020 CSNK2A1 Virtual Conference

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Research Article Summaries

We currently do not have any article summaries for CSNK2A1, but we add resources to our website as they become available. The information available about CSNK2A1 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 CSNK2A1 articles can be found here.

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about CSNK2A1 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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Family Stories

Stories from CSNK2A1  families:

Click here to share your family’s story!

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Previous Quarterly Reports