Table 3.
Patients who have at least one pathogenic mutation identified in this study
| Patient | DNA level | Protein level | Clinical diagnosis | OAE | Age at diagnosis | Hearing loss level |
|---|---|---|---|---|---|---|
| 1 |
c.1422T>A / c.5567G>A |
p.Y474X / p.R1856Q |
ANSD |
+ |
1y6m |
Profound |
| 2 |
c.1422T>A / c.5816G>A |
p.Y474X / p.R1939Q |
ANSD |
+ |
NA |
Profound |
| 3 |
c.5816G>A / c.5816G>A |
p.R1939Q / p.R1939Q |
ANSD |
+ |
4m |
Profound |
| 4 |
c.5816G>A / c.5816G>A |
p.R1939Q / p.R1939Q |
ANSD |
+ |
10m |
Profound |
| 5 |
c.5816G>A / c.5816G>A |
p.R1939Q / p.R1939Q |
ANSD |
+ |
NA |
Profound |
| 6 |
c.4748G>A / c.5816G>A |
p.R1583H / p.R1939Q |
NSHL |
NA |
6m |
Profound |
| 7 |
c.2151G>A / c.5816G>A |
p.W717X / p.R1939Q |
NSHL |
- |
1y4m |
Profound |
| 8 |
c.5816G>A / - |
p.R1939Q /- |
ANSD |
+ |
1y5m |
Profound |
| 9 |
c.5816G>A / - |
p.R1939Q /- |
ANSD |
+ |
7m |
Profound |
| 10 |
c.1194T>A / - |
p.D398E / - |
NSHL |
NA |
NA |
Profound |
| 11 |
c.1350C>G / - |
p.D450E / - |
NSHL |
NA |
2y |
Severe |
| 12 |
c.2180A>G / - |
p.N727S / - |
NSHL |
NA |
6m |
Profound |
| 13 |
c.2180A>G / - |
p.N727S / - |
NSHL |
NA |
1y |
Severe |
| 14 |
c.4103C>G / - |
p.S1368X / - |
NSHL |
NA |
7m |
Profound |
| 15 |
c.5332G>A / - |
p.V1778I / - |
NSHL |
NA |
NA |
Profound |
| 16 | c.5408A>C / - | p.E1803A / - | NSHL | NA | 4m | Profound |
ANSD Auditory neuropathy spectrum disorder, NSHL Nonsyndromic sensorineural hearing loss.