What genetic mutation is associated with Alport Syndrome?

Alport Syndrome is primarily associated with mutations in collagen type IV, which is a crucial component of the basement membranes in various tissues, including the kidneys, ears, and eyes. This genetic condition is typically inherited in an X-linked dominant pattern, although there are autosomal recessive and autosomal dominant forms as well. The mutations affect the structure and function of type IV collagen, leading to the characteristic symptoms of the disease, such as hematuria (blood in urine), proteinuria (protein in urine), progressive kidney failure, and sensorineural hearing loss.

Type IV collagen forms networks in the glomerular basement membrane of the kidneys, which is essential for filtration function. When mutations occur, these networks become dysfunctional, leading to the renal and extra-renal manifestations observed in Alport Syndrome. Hence, the association of Alport Syndrome with collagen type IV mutations is well-established in genetic and clinical studies, making it the correct answer.