Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies.

Bi-allelic loss-of-function variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies in seven individuals from five families.

• Why it matters: Understanding the genetic basis of ciliopathies is crucial for diagnosis and potential therapies, as many such disorders lack clear genetic links and have complex phenotypes.
• What they did: Researchers identified seven affected individuals with bi-allelic CDK20 variants through genetic analysis and confirmed reduced CDK20 levels and cilium dysfunction in patient fibroblasts.
• The result: The study establishes that CDK20 deficiency leads to a severe ciliopathy characterized by brain and facial midline anomalies, enabling improved diagnosis and insights into ciliary biology.