CDK10-related syndrome is caused by bi-allelic mutation or microdeletion within the CDK10 gene. A gene is a small piece of DNA that codes for a protein, which is a structure essential for the formation, and proper functioning of our body. This genetic change disrupts the information encoded by CDK10, which becomes non-readable.
CDK10 kinase activity is regulated by the binding of CDK10 to cyclin M. CDK10/cyclin M complexes have been shown to phosphorylate ETS2 and the protein kinase PKN2, which affects cilia growth. In zebrafish, morpholino-mediated silencing of CDK10 impaired neurogenesis by modulating raf1a expression.
The diagnosis of CDK10-related syndrome is confirmed by performing genetic testing in an affected individual, which enables detection of bi-allelic disease-causing change(s) in CDK10. The pathogenic variants can be detected by CDK10 sequencing (by single-gene testing, multigene panel or exome sequencing) or microarray analysis. Parents’ targeted genetic testing of identified variants is recommended to check segregation.