Table 2 Phenotypic spectrum of 11 subjects (including SB239-463, 464) from 10 families with DFNB9
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 500Â Hz (dB) | CAP score | 3Â m | 6Â m | 12Â m | 24Â m | 36Â 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 |  |  |  |  |  |