Audiovestibular findings in a branchio-oto syndrome patient with a<i>SIX1</i>mutation

Abstract

The findings of DPOAEs, ECochG, and ENG indicated cochlear HL with no vestibular dysfunction. A previously reported mutation of a heterozygous c.386A > G (p.Y129C) in SIX1 was detected. No mutation was identified in EYA1, SLC26A4, GJB2, or MTRNR1.