CohesinMutationen
Cohesin mutations refer to genetic alterations in the *COHESIN* complex, a multi-subunit protein ring structure essential for chromosome dynamics during cell division. The cohesin complex plays a critical role in maintaining sister chromatid cohesion, facilitating proper chromosome segregation, and regulating gene expression through chromatin organization. Mutations in cohesin-related genes have been linked to a spectrum of developmental disorders and cancers.
The primary components of the cohesin complex include the core subunits RAD21, SMC1A, SMC3, and STAG1/STAG2,
Beyond developmental disorders, cohesin mutations have also been implicated in cancer. Altered cohesin activity can contribute
Diagnosis of cohesin-related disorders often involves genetic testing, such as whole-exome sequencing or targeted gene panels,