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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 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.

LATEST REGISTRY REPORT
Download the latest quarterly report here. The goal of this report is to share up-to-date data contributed by families. Sharing your information is very important to the longevity of our study. Your unique experience could hold the clues that scientists need to find answers for you and others with rare genetic disorders. If you want to be included in future reports, join Simons Searchlight today!

To view past registry reports go to the bottom of this page and click on the dropdown menu tab labeled “Previous Registry Reports.”

VOICE OF THE COMMUNITY REPORT
Download the Voice of the Community report here. The Simons Searchlight team is happy to share the results from a special survey called The Simons Searchlight Voice of the Community. The results include specific data and information about your community. We extend a big thank you to everyone who contributed their unique information and insight. We couldn’t have done this without you.

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. CSNK2A1-related syndrome is also called Okur-Chung neurodevelopmental syndrome.

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:

Physical changes
Intellectual disability
Other developmental issues

Do people who have CSNK2A1-related syndrome look different?

People who have CSNK2A1-related syndrome may look different. Appearance can vary and can include some but not all of these features:

Short height
Smaller than average head size, also called microcephaly
Round face
Arched eyebrows
A fold of skin from the upper eyelid, also called epicanthic folds
Low set ears and changes in the ear folds
Wide nasal bridge
Smaller than average jaw, also called micrognathia

Support Resources

Simons Searchlight Community – CSNK2A1 Facebook group
CSNK2A1 Foundation Website – csnk2a1foundation.org – CSNK2A1 Foundation – Facebook page

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.

Presentations

Simons Searchlight Family Research Conference 2022 Registry Update

Registry Update Slide Deck

Simons Searchlight Family & Research Conference 2021 CSNK2A1 Virtual Conference

Simons Searchlight Family & Research Conference 2020 CSNK2A1 Virtual Conference

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.

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.

Family Stories

Stories from CSNK2A1 families:

Click here to share your family’s story!

Previous Registry Reports