In the case with only one missense variant in COL4A5 gene (including glycine substitutions), any of the following items including [27] positive family history of AS or renal failure, hearing loss, typical ocular lesions, typical GBM changes of AS, and abnormal staining of collagen IV α5 chain would help to avoid a misdiagnoses of XLAS. Here, COL4A5 is linked to kidney failure.