CSNK2A1
Below is a summary for the CSNK2A1 gene observed in research publications. This is not meant to take the place of medical advice.
To view the latest quarterly registry report, updated March 2021, with updated data on Simons Searchlight CSNK2A1 participants, click HERE. If you want to be included in future reports, join Simons Searchlight today!
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
Presentations
Simons Searchlight Family & Research Conference 2020
CSNK2A1 Virtual Conference
General Session 1
General Session 2
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.