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Table 3 Patients who have at least one pathogenic mutation identified in this study

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
  1. ANSD Auditory neuropathy spectrum disorder, NSHL Nonsyndromic sensorineural hearing loss.