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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.