From: OTOF mutation screening in Japanese severe to profound recessive hearing loss patients
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 |