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Hum Genet (2016) 135:441–450
13
a
Male
Female
Caucasian
Hispanic
African American
Asian
Middle Eastern
Ashkenazi Jewish
Mixed Ethnicity
Other
AD
AR
No family history
Congenital
Childhood
Adult
Mild-moderate
Severe-profound
Symmetric
Asymmetric
Unilateral
Conductive
Mixed
Normal PE
Abnormal PE
DFNB1
DFNB1 & other
Other testing
% of cohrt
Male
561
281 69 23 16 11 2 25 3 58 123 299 326 153 9 154 194 258 52 38 2 11 333 117 43 11 21 50.1
Female
550 268 59 28 23 14 6 32 4 83 101 305 302 172 9 151 204 273 40 31 4 13 349 116 56 8 13 49.2
Caucasian
1.94 12 01 75 821 053 51 3 63 05 203 312 071 41 161 623 503 311 08
945 862 182
Hispanic
4.11 6 3 11 52 68 2 0 9 21 06 25 23 1 93 47 07 53 11
821
95 96
Afican American
6.4 1 1 2 01 23 0 0 7 5 22 32 01 0 32 32 03 11 5
15
82 32
Asian
6.3 2 2 5 31 62 1 0 1 3 52 61 31 0 21 71 62 6 1
04
32 61
Middle Eastern
2.2 0 1 1 3 91 0 0 0 0 91 61 4 0 5 91 21 8 2
52
41 11
Ashkenazi Jewish
7.0 0 0 2 0 8 0 0 1 1 5 4 4 0 2 6 2 2 4
8
6 2
Mixed Ethnicity
1.5 0 1 7 01 24 0 0 6 5 72 22 12 0 12 43 92 61 21
75
23 52
Other
6.0 0 0 0 2 5 0 0 0 2 5 4 3 0 4 3 3 3 1 7
4 3
AD
58 83 80 11 5 1 2 4 12 1 141
75 45 8 53 40 70 16 8 1 3 87 30 2 2 1 12.6
AR
123 101 113 35 11 6 8 2 16 3
226
147 65 2 68 93 123 18 15 2 0 160 45 25 8 6 20.2
No family history
299 305 305 70 30 26 12 2 29 3
604 372 197 7 165 243 309 50 43 2 17 399 140 64 6 23 54
Congenital
326 302 326 74 23 17 19 6 34 3 75 147 372 629
158 258 325 50 35 3 11 412 149 67 12 23 56.2
Childhood
153 172 161 39 23 12 5 2 21 4 45 65 197
325
122 117 163 35 27 2 10 220 64 28 7 8 29
Adult
9 9 14 1 0 0 0 0 0 0 8 2 7
18 5 9 11 2 1 0 0 14 3 0 0 0 1.6
Mild-moderate
154 151 170 32 10 13 4 4 21 3 53 68 165 158 122 5 306
208 52 14 4 15 201 71 29 5 6 27.3
Severe-profound
194 204 213 52 23 16 16 4 22 4 40 93 243 258 117 9
399 286 36 38 1 6 263 93 50 12 23 35.7
Symmetric
258 273 302 60 22 25 19 5 27 5 70 123 309 325 163 11 208 286 532
2 9 357 126 66 15 25 47.5
Asymmetric
52 40 50 12 5 3 0 1 5 2 16 18 50 50 35 2 52 36
92
1 9 54 26 8 2 1 6.2
Unilateral
38 31 36 9 7 1 0 1 6 0 8 15 43 35 27 1 14 38
69 2 6 45 13 4 1 2 8.2
Conductive
2 4 3 0 0 0 0 0 0 0 1 2 2 3 2 0 4 1 2 1 2 6
3 3 0 0 0 0.5
Mixed
11 13 15 2 0 1 0 0 0 0 3 0 17 11 10 0 15 6 9 9 6
24 10 8 3 1 1 2.1
Normal PE
333 349 350 86 32 26 19 8 42 5 87 160 399 412 220 14 201 263 357 54 45 3 10 683
66 15 13 61
Abnormal PE
117 116 128 25 10 13 3 0 10 2 30 45 140 149 64 3 71 93 126 26 13 3 8
233 20 3 19 20.8
DFNB1
43 56 57 11 2 5 1 2 7 0 2 25 64 67 28 0 29 50 66 8 4 0 3 66 20 99
4 8.8
DFNB1 & other
11 8 10 3 1 2 1 0 1 0 2 8 6 12 7 0 5 12 15 2 1 0 1 15 3
19 1 1.7
Other testing
21 13 21 6 1 2 0 0 0 0 1 6 23 23 8 0 6 23 25 1 2 0 1 13 19 4 1 34 2.1
0 10 25 50 75 100 200 300 400 500 600 683
b
Male
Female
Caucasian
Hispanic
African American
Asian
Middle Eastern
Ashkenazi Jewish
Mixed Ethnicity
Other
AD
AR
No family history
Congenital
Childhood
Adult
Mild-moderate
Severe-profound
Symmetric
Asymmetric
Unilateral
Conductive
Mixed
Normal PE
Abnormal PE
DFNB1
DFNB1 & other
Other testing
Male
38.7
37.0 37.7 26.1 81.3 45.5
32.0
55.2 36.6 36.5 43.3 28.1
38.3 34.5 44.2 19.2 0.0
0.0 40.5 30.8 34.9 63.6 23.8
Female
39.6 38.1 30.5 25.0 47.8 92.9
46.9
45.8 44.6 36.7 45.0 30.2
45.0 35.3 44.3 25.0 3.2
38.5 42.4 24.1 44.6
15.4
Caucasian
0.910.046.833.720.040.02
0.0 0.814.343.331.447.537.138.041.432.440.54
5.731.830.73
Hispanic
5.540.029.43
3.333.332.128.34
1.322.933.437.525.45
4.43
5.037.73
African American
0.015.73
4.634.710.03
0.311.937.623.72
5.52
0.521.62
Asian
2.642.96
0.653.655.16
3.855.678.35
5.26
8.743.18
Middle Eastern
7.37
9.873.18
7.370.57
0.27
9.295.54
Ashkenazi Jewish
Mixed Ethnicity
0.039.24
0.369.046.74
6.821.749.735.730.05
4.04
9.640.23
Other
AD
3.336.05
0.523.450.041.94
8.737.45
6.94
0.05
5.450.548.542.55
AR
36.6 44.6 44.2 25.7 27.3
37.5
40.7
42.9 32.3
50.0 33.3 45.5 22.2 0.0
45.0 15.6 48.0
No family history
36.5 36.7 34.1 34.3 26.7 53.8 75.0
37.9
36.6 43.5 26.4
38.2 34.6 42.1 22.0 0.0
17.6 38.6 30.0 40.6
21.7
Congenital
43.3 45.0 40.8 39.2 39.1 76.5 73.7
47.1
54.7 42.9 43.5 44.2
47.5 39.9 49.2 24.0 2.9
18.2 46.8 30.9 44.8 58.3 30.4
Childhood
28.1 30.2 31.7 23.1 13.0 58.3
28.6
37.8 32.3 26.4
29.2
35.2 25.6 34.4 20.0 0.0
20.0 32.3 21.9 32.1
Adult
35.7
7.53
4.63
8.72
Mild-moderate
38.3 45.0 44.1 43.8 30.0 61.5
47.6
49.1 50.0 38.2 47.5 35.2
41.8
49.5 19.2 0.0
13.3 49.8 22.5 48.3
Severe-profound
34.5 35.3 33.3 21.2 17.4 56.3 81.3
40.9
40.0 33.3 34.6 39.9 25.6
35.1 40.6 25.0 0.0
34.2 30.1 38.0 50.0 21.7
Symmetric
0.027.644.240.136.74
4.446.045.944.634.432.941.245.543.45
0.36
9.870.654.633.334.343.442.44
Asymmetric
5.118.72
7.12
0.522.91
0.020.420.222.220.52
3.330.810.522.91
Unilateral
7.7 0.0
4.1
0.0 0.0
0.0 9.2 0.0 0.0
0.0 2.3 0.0
Conductive
Mixed
0.028.02
3.31
0.022.816.71
0.025.83 0.0
Normal PE
40.5 42.4 40.0 34.9 37.5 69.2 73.7
42.9
50.6 45.0 38.6 46.8 32.3 35.7 49.8 34.2 47.6 27.8 0.0
20.0 41.6
45.5 40.0 15.4
Abnormal PE
30.8 24.1 27.3 20.0 10.0 46.2
30.0
33.3 15.6 30.0 30.9 21.9
22.5 30.1 31.0 11.5 7.7
27.5 25.0
15.8
DFNB1
4.040.525.54
4.240.833.84
1.238.446.040.84
5.546.836.449.43
DFNB1 & other
4.74
0.04
7.640.05
3.85
0.04
6.36
Other testing
6.02
8.514.51
0.027.12
4.037.12
0.914.518.32
0 10 20 30 40 50 60 70 80 90 100
147