Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss - Fig 2

Abstract

<p>(A) SH-01 audiometric phenotype. Pure-tone bone and air conduction thresholds as well as otoacoustic emission are presented for the right ears of the SH-01 family members. Two representative stages (early and late) are presented, with corresponding audiograms. Blue half-frame and open, red circles indicate the bone and air conduction thresholds, respectively, for the indicated ages, from youngest to oldest. Both conduction thresholds were consistent with predominant SNHL, and some individuals at the later stage displayed conductive hearing loss. In the family, Otoacoustic emission could be induced at most frequencies in individuals with normal hearing, while it was the reverse in affected individuals. (B, C) Based on the CT scan and MRI data of the proband (III9) and his aunt (II2), the mastoid process and cochlea were well developed, and the ossicular chain was intact. Additionally, both the internal auditory meatus and the membranous labyrinth were well developed.</p