OTOF and auditory neuropathy: As the proband had not been tested for otoacoustic emission, which is necessary to detect auditory neuropathy, this case was subjected to WES without prescreening for OTOF. Compound heterozygous variants of OTOG were identified in a sporadic case from family 739; the variants were predicted to disrupt splicing at the donor site (5′ splice site) of exon 11 and to be a nonsense mutation.