Which gene is primarily associated with Cornelia de Lange Syndrome?

The gene primarily associated with Cornelia de Lange Syndrome is NIPBL. This condition is a developmental disorder characterized by various physical, cognitive, and behavioral challenges. Mutations in the NIPBL gene lead to disruptions in cohesin, a protein complex that plays a crucial role in DNA repair and chromosome organization during cell division.

The role of the NIPBL gene in Cornelia de Lange Syndrome underscores its importance in maintaining proper development. Individuals with mutations in NIPBL typically exhibit features such as growth delays, limb malformations, and distinct facial features which are hallmarks of the syndrome. While other genes may be linked to other conditions or different phenotypes, it is NIPBL that is most strongly associated with the classic presentation of Cornelia de Lange Syndrome. This emphasizes the critical role of specific genetic causes in understanding and diagnosing congenital syndromes.