Families DE3395 and DE3386.

(A) Probands of each family are indicated by arrows. (B) Audiograms of DE3395 (left) and DE3386 (right). Both recipients had bilateral symmetric flat-type audiograms of profound severity. Hearing levels of the right ear and left ear are marked with red and blue lines, respectively.</p

Pipeline used to identify candidate variants.

Forty-one patients with CI who lacked the known mutations in common deafness-associated genes were subjected to comprehensive genetic analysis by using an Ion Torrent PGM sequencer to target 40 relatively rare deafness genes. Variants were called using plug-in Torrent variant detection algorithms, annotated through wANNOVAR, and initially confirm using the integrative Genome viewer. Annotated variants were filtered by various criteria, including: being located in an exonic region; being non-synonymous; having an allele frequency 85% for homozygotes; and being absent from online databases and 128 ethnically matched normal hearing controls. SIFT, Polyphen 2, and Mutation taster were used to predict the functions of the identified variants; we first filtered for missense variants, and then directly identified indels, splicing site variants, and nonsense variants.</p

CI outcomes of the 10 patients with the identified candidate variants.

CI outcomes of the 10 patients with the identified candidate variants.</p

Variants identified in the parents of DE3386 (DE4451 and DE4452).

Variants identified in the parents of DE3386 (DE4451 and DE4452).</p

Candidate variants detected in nine genes of 41 patients.

Each color bar indicates a different variant type, as indicated.</p

Thirteen different variants were identified in 10 patients.

Thirteen different variants were identified in 10 patients.</p

The results of SERT and PPVT-R obtained from total participants and subgroups A and B.

<p>The statistical differences (<i>p</i> value) between groups A and B were demonstrated.</p

The correct percentage of 30 sound effects in SERT of CI participants listed according to the sound categories (A, B and C, see text).

<p>The notations “+” and “−” represent the presence or absence of the acoustic features (i.e. temporal pattern and harmonics).</p

Relationship between the correct percentage in SERT and the PTA average on the better ear.

<p>The scatter plot with linear regression prediction line of 95% confidence interval of correct percentage in SERT and the independent variables (i.e.PTA on the better ear, in dB HL).</p

Summary of previous studies on environmental sound recognition performance by patients who received cochlear implants.

<p>Summary of previous studies on environmental sound recognition performance by patients who received cochlear implants.</p