It is reported that the BOR related pathogenic gene was located on chromosome 8q13.3 using linkage studies.[5] Then, a novel causative gene, named as EYA1 was identified though several patients with BOR syndrome.[6] EYA1 is a conserved transcriptional co-activator functions as a protein phosphatase, and is highly expressed in embryonic kidney of human. This evidence concerns the gene EYA1 and BOR syndrome.