Simons Searchlight

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.

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.

Family Stories

Stories from CSNK2A1 families:

Click here to share your family’s story!