Atypical Alport syndrome associated with a novel COL4A5 mutation

Alport syndrome is a progressive hereditary renal disease. Mutations in the genes encoding for three members of the type IV collagen protein family have been found to be the cause of the disease. Alport syndrome is often associated with sensorineural hearing loss and ocular abnormalities, and patients suffering from typical Alport syndrome usually develop end stage renal disease during adolescence or young adulthood. Here we report on a family with atypical Alport disease initially presenting as hereditary focal and segmental glomerulosclerosis. Genetic testing identified a previously undescribed COL4A5 mutation as cause of the disease.