In contrast to the western population where large cohort studies have been performed on BOR/BO syndrome, limited information is available concerning genetic mutations of this syndrome in the East Asian population, and a total of 16 mutations in the EYA1 gene have been reported including 7 nonsense, 3 frameshift, 3 splice-site, 2 missense mutations, and 1 partial deletion [17]. Here, EYA1 is linked to BOR syndrome.