Table 2.
Audiological phenotypes of previously reported homozygous OTOF mutations
| Mutations | Age tested/ Number of Cases |
Hearing level | OAE | Reference | |
|---|---|---|---|---|---|
| Missense | p.Leu1011Pro | 6y / 1 | Severe-profound | Bil (+) | Tekin et al. [9] |
| 17y/ 1 | Severe-profound | Bil (−) | |||
| 18y/ 1 | Severe-profound | Bil (+) | |||
| p.Phe1795Cys | 12-20m/ 1 | Profound | Bil (+) | Santeralli et al. [22] |
|
| 2y6m/ 1 | Profound | Bil (+) | Zadro et al. [23] | ||
| p.Glu1700Gln | 1y7m-2y7m/4 | Progressive moderate | (+) | Chiu et al. [13] | |
| 2y/ 1 | Progressive profound | (−) | |||
| Birth→2y/1 | Progressive profound | (+)→(−) | |||
| p.G541S | 26/1 | Temperature sensitive hearing loss |
(−) | Varga et al. [6] | |
| p.R1939Q | 1y7m-2y6m/5 | Profound | (−) | Matsunaga et al. [18] |
|
| 1y9m-2y10m/2 | Severe | (−) | |||
| 4m-10m/3 | Profound | (+) | Iwasa et al. [25] | ||
|
Other
Mutations |
c.1981dupG p.D661GfsX2 |
na/1 | Profound | na | Mahdieh et al. [26] |
| p.Gln829Ter | 1-11y/3 | Profound | Bil (+) | Rodriguez- Ballesteros et al. [8] |
|
| 2-9y/3 | Profound | Uni (+) | |||
| 2y/ 1 | Profound | Bil (+)→ Bil (−) |
|||
| 4-85y/7 | Profound | Bil (−) | |||
| c.1886_1887dupA (p.Pro630SerfsX9) |
16m-4y/ 2 | Profound | Bil (+) | Varga et al. [22] | |
| IV18+1G>T | 3-6y/2 | Moderate to severe | Bil (+) | ||
| IVS28-2A>C | 15m-3y/ 2 | Profound | Bil (+) | ||
| IVS9-2T>A | 3y/ 1 | Profound | Bil (+) | Zadro et al. [23] | |
| p.Glu1804Del | 7-10y/3 | Temperature sensitive hearing loss |
Bil (+) | Marlin et al. [24] | |
(+)→(−): Present both ears in the first test became absent later on