OTOF-Related
Severe to profound loss from changes in both copies of OTOF, which makes otoferlin. The hair cells respond to sound, but the inner hair cells can’t pass the signal on to the hearing nerve, a form of auditory neuropathy. Early on, a hearing test can find the cochlea responding normally even when little or no sound is heard. Cochlear implants usually work well, and in April 2026 the FDA approved the first gene therapy for it.
Summary
- Severity
- Profound101 dB HL
- Most loss at
- 3 kHz · 105 dB
Degree of the worse ear, averaged over all eight frequencies, on the scale used by U.S. audiologists (ASHA)
Pure-tone average (PTA)
- Left ear
- 98dB
- Profound
- Right ear
- 98dB
- Profound
What’s a pure-tone average?
Pure-tone average is the quietest tone each ear can just hear, averaged across three pitches central to speech (500 Hz, 1 kHz, and 2 kHz). It’s the single number U.S. audiologists use to sum up an audiogram. 15 dB or lower is normal hearing, and every 10 dB higher means sounds need to be about twice as loud to be heard. Internationally, the World Health Organization averages four pitches, adding 4 kHz, so where high pitches have more loss its number comes out higher.
Thresholds by frequency
| Hz | L | R |
|---|---|---|
| 250 | 90 | 90 |
| 500 | 95 | 95 |
| 1k | 100 | 100 |
| 2k | 100 | 100 |
| 3k | 105 | 105 |
| 4k | 105 | 105 |
| 6k | 105 | 105 |
| 8k | 105 | 105 |