How Do Mutations in ERCC6 and ERCC8 Affect Health?
Mutations in ERCC6 and ERCC8 can significantly impair DNA repair mechanisms, leading to a buildup of DNA damage. This can result in Cockayne Syndrome, characterized by premature aging, photosensitivity, neurological deficits, and growth failure. The severity of symptoms can vary depending on the specific mutation and its impact on gene function. In severe cases, individuals may also experience developmental delays and early mortality.