Table 2. Phenotypes and genotypes of affected EVA subjects.
| ID | Age | Mutation allele 1/allele 2 | Age of awareness | Progression | Fluctuation | Tinnitus | Vertigo | Goiter | Threshold (Rt) (dB)a | Threshold (Lt) (dB)a | Hearing level in the low frequenciesb |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 77 | 12 | p. [917delT][=] | 12 | + | + | + | + | − | 58.75 | 45 | 49.375 |
| 237 | 7 | p. [T721M][H723R] | 0 | + | − | − | + | − | 112.5 | 68.75 | 83.75 |
| 334 | 23 | p. [A372V][H723R] | 0 | NA | NA | + | NA | NA | 96.25 | 83.75 | 81.9 |
| 695 | 4 | p. [K369E][H723R] | 0 | + | − | NA | NA | − | 100 | 90 | 89.4 |
| 752 | 18 | p. [1652insT][=] | 1 | − | − | + | + | + | 98.75 | 102.5 | 96.3 |
| 1045 | 25 | p. [H723R][H723R] | 0 | + | NA | − | + | + | 78.75 | 90 | 85.6 |
| 1306 | 3 | p. [919-2A>G][H723R] | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
| 1365 | 20 | p. [T721M][=] | 2 | NA | NA | NA | NA | NA | 96.25 | 105 | 96.9 |
| 1379 | 10 | p. [1001+1G>A][H723R] | 0 | + | + | − | − | NA | 66.25 | 46.25 | 57.5 |
| 1432 | 6 | p. [H723R][=] | 0 | + | − | − | − | NA | 102.5 | 105 | 100.0 |
| 1625 | 16 | p. [919-2A>G][H723R] | 0 | + | + | NA | + | NA | 100 | 95 | 88.1 |
| 1795 | NA | p. [H723R][=] | NA | NA | N/A | NA | NA | NA | NA | NA | NA |
| 1820 | 12 | p. [H723R][H723R] | 5 | + | + | − | − | NA | 72.5 | 73.75 | 61.3 |
| 1957 | 7 | p. [S666F][H723R] | 3 | + | + | NA | NA | − | 95 | 101.25 | 93.8 |
| 1961 | 12 | p. [C565Y][H723R] | 0 | + | N/A | NA | NA | NA | 108.75 | 110 | 103.8 |
| 2010 | 12 | p. [416-1G>A][H723R] | 9 | + | + | − | − | + | 80 | 91.25 | 81.3 |
| 2202 | 4 | p. [P297Q][T527P] | 3 | + | − | − | − | − | 77.5 | 76.25 | 73.8 |
| 2331 | 31 | p. [H723R][H723R] | 0 | + | + | + | + | + | 90 | 100 | 87.5 |
| 2449 | 1 | p. [139insC][322delC] | 0 | NA | NA | − | + | − | 100 | 85 | 92.5 |
| 2462 | 52 | p. [M147V][H723R] | 2 | + | + | − | − | − | 98.75 | 95 | 88.1 |
| 2498 | 0 | p. [919-2A>G][1001+1G>A] | 0 | + | + | NA | − | − | 86.25 | 86.25 | 83.8 |
| 2538 | 10 | p. [H723R][H723R] | 3 | + | + | − | − | + | 81.25 | 55 | 66.9 |
| 2621 | 3 | p. [R581S][H723R] | 0 | + | + | − | − | − | 91.25 | 91.25 | 90.0 |
| 2695 | 13 | p. [T527P][H723R] | 2 | + | + | + | + | − | 62.5 | 61.25 | 63.1 |
| 2728 | 3 | p. [919-2A>G][H723R] | 1 | + | + | − | − | − | 97.5 | 97.5 | 93.8 |
| 2798 | 15 | p. [H723R][H723R] | 4 | + | + | NA | + | + | 52.5 | 96.25 | 66.3 |
| 2804 | 2 | p. [1707+5G>A][H723R] | 0 | + | + | − | − | − | 78.75 | 78.75 | 82.5 |
| 3072 | 44 | p. [G439R][H723R] | 6 | + | + | + | + | − | 110 | 108.75 | 105.0 |
| 3074 | 21 | p. [H723R] [=] | 2 | + | + | + | + | + | 105 | 106.25 | 99.4 |
| 3298 | 6 | p. [919-2A>G][H723R] | 0 | + | + | + | + | − | 73.75 | 110 | 86.9 |
| 3301 | 4 | p. [416-1G>A][H723R] | 0 | + | + | + | + | − | 65 | 72.5 | 68.1 |
| 3442 | 6 | p. [919-2A>G][H723R] | NA | + | NA | + | + | − | 81.25 | 50 | 60.0 |
| 3450 | 14 | p. [H723R][H723R] | 0 | + | + | + | + | − | 110 | 73.75 | 87.5 |
| 3561 | 6 | p. [H723Y][H723Y] | 4 | NA | NA | NA | NA | NA | 83.75 | 65 | 71.3 |
| 3994 | 59 | p. [601-1G>A][H723R] | 10 | + | + | + | + | + | 96.0 | 94 | 91.3 |
| 3996 | 8 | p. [H723R][1652insT] | 0 | + | − | + | − | − | 100 | 110 | 98.1 |
| 3999 | 8 | p. [H723R][1652insT] | 0 | + | + | − | + | − | 30 | 50 | 40.0 |
| 4050 | 5 | p. [M147V][H723R] | 1 | + | + | + | + | − | 107.5 | 85 | 93.8 |
| 4097 | 3 | p. [N392Y][1002-9A>G] | 0 | − | − | − | − | − | 106.25 | 85 | 93.1 |
| 4098 | 26 | p. [N392Y][919-2A>G] | 2 | − | + | + | + | − | 110 | 37.5 | 71.3 |
| 4102 | 5 | p. [N392Y][H723R] | 0 | + | + | + | + | − | 95 | 78.75 | 83.1 |
| 4131 | 10 | p. [H723R][=] | 8 | + | + | − | − | − | 81.25 | 60 | 70.6 |
| 4144 | 21 | p. [H723R][H723R] | 4 | + | NA | + | + | − | 93.75 | 105 | 95.6 |
| 4232 | 15 | p. [V659L][H723R] | NA | − | + | + | + | − | 60 | 92.5 | 69.4 |
| 4299 | 4 | p. [S532I][2111ins GCTGG] | 3 | − | + | − | + | − | 17.5 | 70 | 42.5 |
| 4305 | 14 | p. [A434T][=] | 0 | + | − | + | − | − | 110 | 110 | 105.0 |
| 4320 | 10 | p. [G396E][S532I] | NA | + | + | + | − | − | 72.5 | 80 | 72.5 |
| 4338 | 6 | p. [R581S][H723R] | 0 | + | + | + | + | − | 78.75 | 52.5 | 64.4 |
| 4380 | 10 | p. [1707+5G>A][H723R] | 2 | + | + | − | − | − | 96.25 | 81.25 | 84.4 |
| 4386 | 21 | p. [H723R][H723R] | NA | + | + | + | + | + | 77.5 | 93.75 | 85.0 |
| 4398 | 4 | p. [1652insT][H723R] | 2 | + | + | + | + | − | 70 | 97.5 | 86.9 |
| 4434 | 8 | p. [T410M][1707+5G>A] | 1 | + | + | − | + | − | 92.5 | 100 | 91.3 |
| 4469 | 11 | p. [H723R] [=] | 0 | + | NA | − | − | − | 20 | 21.25 | 16.9 |
| 4485 | 40 | p. [H723R] [=] | 10 | + | + | + | + | − | 56.25 | 65 | 58.8 |
| 4486 | 20 | p. [1707+5G>A][1707+5G>A] | 4 | + | + | + | + | + | 72.5 | 95 | 78.1 |
| 4490 | 25 | p. [T410M][T410M] | 0 | − | − | + | + | + | 87.5 | 92.5 | 90.0 |
| 4508 | 29 | p. [H723R][H723R] | 5 | + | + | − | − | − | 85 | 110 | 91.9 |
| 4518 | 26 | p. [H723R][919-2A>G] | 0 | + | + | + | + | − | 105 | 97.5 | 98.1 |
| 4530 | 5 | p. [H723R][919-2A>G] | 0 | + | + | − | + | − | 67.5 | 86.25 | 71.9 |
| 4545 | 12 | p. [1707+5G>A][H723R] | 4 | + | + | + | + | + | 86.25 | 28.75 | 53.1 |
| 4549 | 13 | p. [V659L][1219delCT] | NA | + | + | + | + | − | 38.75 | 50 | 38.1 |
| 4663 | 0 | p. [1707+5G>A][H723R] | 0 | − | + | NA | NA | − | 68.75 | 68.75 | 99.2 |
| 4696 | 0 | p. [V659L][H723R] | 0 | + | − | NA | NA | − | NA | NA | 97.5 |
| 4362 | 26 | p. [H723R] [=] | 6 | + | − | − | − | − | 70 | 68.75 | 63.8 |
| 4513 | 34 | p. [H723R] [=] | NA | + | + | + | NA | − | 71.25 | 53.75 | 61.3 |
| 4645 | 23 | p. [919-2A>G] [=] | 14 | + | − | + | − | − | 96.25 | 105 | 93.8 |
| 723 | NA | p. [H723R] [=] | NA | NA | NA | NA | NA | NA | NA | NA | NA |
| 724 | NA | p. [2111ins5bp] [=] | NA | NA | NA | NA | NA | NA | NA | NA | NA |
| 742 | NA | p. [H723R] [=] | NA | NA | NA | NA | NA | NA | NA | NA | NA |
| 1975 | 3 | p. [H723R][H723R] | 0 | NA | NA | NA | NA | NA | 80 | 70 | 62.5 |
| 2082 | 2 | p. [H723R][H723R] | 0 | − | − | − | − | − | NA | NA | NA |
| 4735 | 9 | p. [H723R][919-2A>G] | 0 | + | + | + | + | − | 107.5 | 110 | 103.8 |
| 195 | 20 | p. [=][=] | 2 | + | + | + | + | − | 83.75 | 83.75 | 81.9 |
| 670 | 8 | p. [=][=] | 3 | + | − | + | − | − | 26.25 | 107.5 | 62.5 |
| 1755 | 16 | p. [=][=] | NA | NA | NA | NA | NA | NA | NA | NA | NA |
| 2607 | 5 | p. [=][=] | 0 | − | + | − | − | − | 97.5 | 105 | 98.8 |
| 3851 | 33 | p. [=][=] | 0 | + | + | + | − | + | 103.75 | 103.75 | 100.6 |
| 4194 | 11 | p. [=][=] | NA | + | + | − | − | − | 67.5 | 80 | 76.3 |
| 4215 | 5 | p. [=][=] | 0 | + | + | − | − | − | 98.75 | 93.75 | 93.8 |
| 4216 | 55 | p. [=][=] | NA | + | + | + | + | NA | 51.25 | 78.75 | 68.8 |
| 4258 | 30 | p. [=][=] | 28 | NA | − | + | − | − | 17.5 | 7.5 | 13.8 |
| 4281 | 6 | p. [=][=] | 2 | − | − | − | − | − | 57.5 | 61.25 | 63.1 |
| 4324 | 37 | p. [=][=] | 6 | − | − | − | − | − | 10 | 27.5 | 22.5 |
| 4352 | 3 | p. [=][=] | 0 | + | + | − | − | − | 86.25 | 88.75 | 88.1 |
| 4357 | 6 | p. [=][=] | 4 | + | + | + | − | − | 71.25 | 72.5 | 67.5 |
| 4397 | 5 | p. [=][=] | 0 | − | − | − | − | − | 102.5 | 105 | 100.6 |
| 4402 | 8 | p. [=][=] | 0 | + | − | − | − | − | 100 | 90 | 88.8 |
| 4450 | 12 | p. [=][=] | NA | + | + | + | − | − | NA | NA | NA |
| 4462 | 8 | p. [=][=] | 7 | + | − | + | − | − | 63.75 | 20 | 41.3 |
| 4488 | 1 | p. [=][=] | 0 | − | − | NA | − | − | 97.5 | 97.5 | 95.0 |
| 4671 | 2 | p. [H723R][600+1G>T] | 0 | + | − | − | + | − | NA | NA | NA |
| 3253 | NA | p. [I529S][H723R] | NA | NA | NA | NA | NA | NA | NA | NA | NA |
| 4949 | 0 | p. [L727X][H723R] | 0 | + | − | − | − | − | NA | NA | 51.7 |
| J27 | NA | p. [H723R][S448L] | NA | NA | NA | NA | NA | NA | NA | NA | 90.6 |
| 3309 | 5 | p. [919-2A>G][P76S] | 0 | + | + | + | + | − | 106.25 | 106.25 | 101.3 |
| J15 | 0 | p. [P123S][H723R] | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
| FUK2004 | 1 | p. [H723R][T94I] | 0 | NA | NA | N/A | NA | NA | NA | NA | 85.0 |
| 1299 | NA | p. [S610X][S657N] | 0 | NA | NA | NA | NA | NA | NA | NA | NA |
| SNS5500 | 42 | p. [919-2A>G][919-2A>G] | 4 | + | + | + | + | + | 70 | 81.3 | 64 |
| SNS5503 | 37 | p. [H723R][1707+5G>A] | 5 | + | + | + | + | + | 67.5 | 70 | NA |
Abbreviation: EVA, enlarged vestibular aqueduct; Lt, left; NA, not available; Rt, right.
a
Average of 500, 1000, 2000 and 4000 Hz.
b
Average of 125, 250 and 500 Hz.