Research Explained: Two novel CSNK2A1 variants associated with mild Okur-Chung neurodevelopmental syndrome phenotype

Authors : Mohamed Wafik, Heidi Kuoppamaa, Priyal Hirani, John Hignett, Suzanne Lillis, Karine Lascelles, Shweta Sardesai, Kumudini Gomez, Muriel Holder-Espinasse 

Research Explained By: Gabrielle Rushing, PhD

Research Simplified Summary: 

This study was a short case report explaining the discovery of two new DNA variants in the CSNK2A1 gene that are causative for Okur-Chung Neurodevelopmental Syndrome (OCNDS). The individuals who had these new DNA changes showed milder symptoms compared to what was known before. One patient had seizures but didn't experience any delays in their development. The other patient had some differences in their physical features like a smaller head and low-set ears. They also had mild delays in their development, but they were doing well in regular education programs and didn't have seizures.

This report shows that OCNDS can vary in the symptoms people experience and how severe those symptoms are. It also emphasizes the importance of finding new patients and involving affected individuals in research. This will help us understand the range of symptoms better and make connections between the DNA changes and the type of symptoms that appear. By improving our understanding of how these DNA changes affect the symptoms, we can develop better strategies for treatment in the future.

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