Mutational Analysis of Alport syndrome genes (COL4A3, COL4A4 and COL4A5) by Beijing Genomics Institute revealed the mutation in COL4A5 (c.1351 T > C, p.Cys451Arg, hemizygous, missense mutation) encoding α5 of type IV collagen. Here, COL4A5 is linked to Alport syndrome.