Mutation screening of the <i>EYA1, SIX1</i>, and <i>SIX5</i> genes in an east asian cohort with branchio‐oto‐renal syndrome

Abstract

Two novel EYA1 mutations (c.466C>T and c.1735delG) were identified in two families with BOR syndrome. SIX1 and SIX5 mutations were not detected in the present study. Further investigation is warranted regarding the contribution of SIX1 and SIX5 mutations to BOR syndrome in East Asian populations.