Which gene mutation is associated with Cockayne Syndrome?

Cockayne Syndrome is a rare genetic disorder characterized by growth failure, premature aging, and sensitivity to sunlight. The syndrome is primarily associated with defects in the DNA repair mechanisms of the cell, specifically in the pathway responsible for repairing damaged DNA.

The gene mutations linked to Cockayne Syndrome are predominantly found in the ERCC6 and ERCC8 genes. Both of these genes are critical for the process of nucleotide excision repair, which is necessary for the proper repair of DNA damage induced by ultraviolet (UV) light and other factors. Mutations in these genes lead to the inability of cells to effectively repair their DNA, resulting in the clinical features observed in Cockayne Syndrome.

Understanding this connection between Cockayne Syndrome and mutations in ERCC6 and ERCC8 is important in genetic counseling and diagnosis, as it helps to provide insight into the underlying mechanism of the disorder and facilitates appropriate management and support for affected individuals and their families.