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

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

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

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

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

Thirteen different variants were identified in 10 patients.

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

Candidate variants detected in nine genes of 41 patients.

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