Mutations in the Col4a4 gene can lead to several hereditary diseases, most notably Alport Syndrome. This condition is characterized by progressive kidney disease, hearing loss, and eye abnormalities. Mutations disrupt the normal structure and function of the basement membrane, leading to compromised filtration in the kidneys and other associated symptoms. Another condition associated with Col4a4 mutations is Thin Basement Membrane Nephropathy (TBMN), which is generally milder but can still cause hematuria and, in some cases, progress to chronic kidney disease.
