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Table 2 Phenotypic spectrum of 11 subjects (including SB239-463, 464) from 10 families with DFNB9

From: Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics

Family ID Genotype variant (OTOF)
NM_001287489
NP_001274418
Age at first CI (month) Laterality Pre-CI assessment Post-CI CAP score
ABR (dB) OAE ASSR at 500 Hz (dB) CAP score 3 m 6 m 12 m 24 m 36 m
SB10-23 c.5816G > A: p.Arg1939Gln
homozygous state
21 Bilateral,
Sequential
B) NR L) response (+) R) 105
L) 80
0 1 1 4 6 7
SH132-273 c.5816G > A: p.Arg1939Gln
homozygous state
22 Bilateral,
Sequential
B) NR B) response (+) R) 110
L) 105
0 2 3 5 7  
SB22-51 c.5816G > A: p.Arg1939Gln
Large genomic deletion (Chr2:26710657 ~ 26706557)
26 Bilateral,
Sequential
B) NR L) response (+) R) 75
L) 70
0 1   5 5 7
SB204-398 c.5816G > A: p.Arg1939Gln
c.5566C > T: p.Arg1856Trp
13 Bilateral,
Simulatneous
B) NR B) response (+) R) 80
L) 100
0 2 4 4 5  
SH81-185 c.5816G > A: p.Arg1939Gln
c.2521G > A: p.Glu841Lys
25 Bilateral,
Sequential
B) NR B) response (+) NA 0 1 1 4 4  
SB239-463 c.2521G > A: p.Glu841Lys
c.3032T > C: p.Leu1011Pro
14 Bilateral,
Simulatneous
B) NR B) response (+) R) 65
L) 65
1 3 5 5   
SB239-464 c.5816G > A: p.Arg1939Gln
c.2521G > A: p.Glu841Lys
14 Bilateral,
Simulatneous
B) NR B) response (+) R) 80
L) 80
0 2 4 5   
SH195-443 c.3192C > G: p.Tyr1064Ter
homozygous state
24 Bilateral,
Simulatneous
B) NR B) response (+) R) 85
L) 100
1 3 FU loss    
SH234-547 c.5816G > A: p.Arg1939Gln
c.5566C > T: p.Arg1856Trp
15 Bilateral,
Simulatneous
B) NR B) response (+) R) 90
L) 85
0 3     
AJ2-3 c.5534G > A: p.Gly1845Glu
c.3032T > C: p.Leu1011Pro
18 Bilateral,
Sequential
B) NR B) response (+) R) 100
L) 90
0 4 4    
SH230-538 c.4227 + 5G > C
c.2521G > A: p.Glu841Lys
Scheduled NA B) NR B) response (+) R) 75
L) 60
0      
  1. NR, no response; NA, not applicable