CSNK2A1

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

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
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Support Resources

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Presentations

Simons Searchlight Family & Research Conference 2020

CSNK2A1 Virtual Conference

 

General Session 1

 

General Session 2

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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.

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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.

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Family Stories

We do not currently have any stories from CSNK2A1 families.

Click here to share your family’s story!