What is the primary genetic cause of Koolen De Vries Syndrome?

Koolen De Vries Syndrome is primarily caused by a deletion on chromosomal region 17q21. This deletion affects the KANSL1 gene, which plays a critical role in brain development and function. Individuals with this syndrome often exhibit developmental delays, intellectual disability, and distinctive facial features, which are all linked to the disrupted functioning of the genes located in this region.

The specific deletion at 17q21 results in a loss of gene dosage for KANSL1, leading to the characteristic features and symptoms associated with the syndrome. Understanding the underlying genetic cause is essential for accurate diagnosis, genetic counseling, and potential management strategies for affected individuals and their families.