Okur-Chung Neurodevelopmental Syndrome (OCNDS) (OMIM # 617062) is a rare genetic disorder first identified in 2016. Everyone with OCNDS has some degree of developmental delay and/or differences in brain function.
Over 160 individuals worldwide have been diagnosed with OCNDS so far. This number is expected to increase with increasing utilization of WES in other regions of the world.
OCNDS is caused by heterozygous mutations in the CSNK2A1 gene on chromosome 20.
Missense (most common), frameshift, stop-gain, splice site, and whole or partial gene deletion mutations occur in OCNDS. We do not yet know if the severity of the clinical findings is correlated with different mutation types.
CSNK2A1 mutations are new in the individual with OCNDS (de novo) and are not present in either parent. The risk for parents to have another child with OCNDS in a future pregnancy is ~1% because there is a small chance that one of the parents has additional egg or sperm cells with the CSNK2A1 mutation. If an individual with OCNDS has children, there is a 50% risk of passing the CSNK2A1 mutation to their children.
OCNDS affects both males and females.
The most common symptoms of OCNDS are below. We are still determining how frequently these occur and at what ages they commonly occur or resolve.
There is not a definitive cure for OCNDS yet; however, specific measures should be taken for associated findings:
You can contact CSNK2A1 (OCNDS) Foundation at à https://www.csnk2a1foundation.org/
You can connect with families via their Facebook group page à https://www.facebook.com/groups/524315764434784/?ref=bookmarks
You can contact the CSNK2A1 (OCNDS) foundation at à https://www.csnk2a1foundation.org/
Written by: Dr. Wendy Chung and Dr. Volkan Okur
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