2017 Sec 1 Green Book

Hum Genet (2016) 135:441–450

a

Ashkenazi Jewish

Mixed Ethnicity Other AD

Male

Female

Caucasian

African American Asian

Middle Eastern

AR

No family history Congenital

Hispanic

Childhood Adult

Mild-moderate

% of cohrt

Severe-profound Symmetric

Asymmetric

Unilateral

Conductive Mixed

Normal PE

Abnormal PE DFNB1

DFNB1 & other

Other testing

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 945 862 182

1.94 12 01 75 821 053 51 3 63 05 203 312 071 41 161 623 503 311 08 4.11 6 3 11 52 68 2 0 9 21 06 25 23 1 93 47 07 53 11 6.4 1 1 2 01 23 0 0 7 5 22 32 01 0 32 32 03 11 5 6.3 2 2 5 31 62 1 0 1 3 52 61 31 0 21 71 62 6 1 2.2 0 1 1 3 91 0 0 0 0 91 61 4 0 5 91 21 8 2 7.0 0 0 2 0 8 0 0 1 1 5 4 4 0 2 6 2 2 4 1.5 0 1 7 01 24 0 0 6 5 72 22 12 0 12 43 92 61 21 6.0 0 0 0 2 5 0 0 0 2 5 4 3 0 4 3 3 3 1 7

Hispanic

95 96 82 32 32 61 41 11

821

Afican American

15

Asian

04

52

Middle Eastern Ashkenazi Jewish Mixed Ethnicity

6 2

8

23 52

75

Other

4 3 AD 58 83 80 11 5 1 2 4 12 1 141 AR 123 101 113 35 11 6 8 2 16 3

75 45 8 53 40 70 16 8 1 3 87 30 2 2 1 12.6 147 65 2 68 93 123 18 15 2 0 160 45 25 8 6 20.2 604 372 197 7 165 243 309 50 43 2 17 399 140 64 6 23 54

226

No family history 299 305 305 70 30 26 12 2 29 3

Congenital 326 302 326 74 23 17 19 6 34 3 75 147 372 629 Childhood 153 172 161 39 23 12 5 2 21 4 45 65 197 Adult 9 9 14 1 0 0 0 0 0 0 8 2 7

158 258 325 50 35 3 11 412 149 67 12 23 56.2 122 117 163 35 27 2 10 220 64 28 7 8 29 18 5 9 11 2 1 0 0 14 3 0 0 0 1.6 208 52 14 4 15 201 71 29 5 6 27.3 399 286 36 38 1 6 263 93 50 12 23 35.7

325

Mild-moderate 154 151 170 32 10 13 4 4 21 3 53 68 165 158 122 5 306 Severe-profound 194 204 213 52 23 16 16 4 22 4 40 93 243 258 117 9 Symmetric 258 273 302 60 22 25 19 5 27 5 70 123 309 325 163 11 208 286 532 Asymmetric 52 40 50 12 5 3 0 1 5 2 16 18 50 50 35 2 52 36 Unilateral 38 31 36 9 7 1 0 1 6 0 8 15 43 35 27 1 14 38 Conductive 2 4 3 0 0 0 0 0 0 0 1 2 2 3 2 0 4 1 2 1 2 6 Mixed 11 13 15 2 0 1 0 0 0 0 3 0 17 11 10 0 15 6 9 9 6 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 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 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 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 2 9 357 126 66 15 25 47.5 1 9 54 26 8 2 1 6.2 69 2 6 45 13 4 1 2 8.2 92 3 3 0 0 0 0.5 24 10 8 3 1 1 2.1 66 15 13 61 233 20 3 19 20.8 4 8.8

b

Ashkenazi Jewish

Mixed Ethnicity Other AD

AR No family history Congenital 55.2 36.6 36.5 43.3 28.1 45.8 44.6 36.7 45.0 30.2

Male

Female

Caucasian 37.0 37.7 26.1 81.3 45.5 Hispanic African American Asian

Middle Eastern 32.0

Childhood Adult

Mild-moderate 38.3 34.5 44.2 19.2 0.0 45.0 35.3 44.3 25.0 3.2 Severe-profound Symmetric

Conductive Mixed

Asymmetric

Unilateral

Normal PE 0.0 40.5 30.8 34.9 63.6 23.8 Abnormal PE DFNB1

Other testing

DFNB1 & other

Male 38.7

Female

39.6 38.1 30.5 25.0 47.8 92.9

46.9

38.5 42.4 24.1 44.6

15.4

Caucasian

5.731.830.73

0.910.046.833.720.040.02 0.0 0.814.343.331.447.537.138.041.432.440.54

Hispanic

4.43 5.037.73

3.333.332.128.34 1.322.933.437.525.45

5.540.029.43

African American

0.521.62 8.743.18 9.295.54

5.52

4.634.710.03 0.311.937.623.72

0.015.73 2.642.96

Asian

5.26

3.855.678.35

0.653.655.16

Middle Eastern Ashkenazi Jewish Mixed Ethnicity

0.27

7.370.57

9.873.18

7.37

9.640.23

4.04

0.369.046.74 6.821.749.735.730.05

0.039.24

Other AD

5.450.548.542.55

0.05

6.94

8.737.45

0.523.450.041.94

3.336.05

AR 36.6 44.6 44.2 25.7 27.3

37.5 37.9 47.1 28.6

40.7

42.9 32.3

50.0 33.3 45.5 22.2 0.0 38.2 34.6 42.1 22.0 0.0 47.5 39.9 49.2 24.0 2.9 35.2 25.6 34.4 20.0 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 Congenital 43.3 45.0 40.8 39.2 39.1 76.5 73.7

36.6 43.5 26.4

17.6 38.6 30.0 40.6

21.7

54.7 42.9 43.5 44.2

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

37.8 32.3 26.4

29.2

20.0 32.3 21.9 32.1

Adult

35.7

8.72

4.63

7.53

Mild-moderate 38.3 45.0 44.1 43.8 30.0 61.5 Severe-profound 34.5 35.3 33.3 21.2 17.4 56.3 81.3

47.6 40.9

49.1 50.0 38.2 47.5 35.2 40.0 33.3 34.6 39.9 25.6

41.8

49.5 19.2 0.0

13.3 49.8 22.5 48.3

35.1 40.6 25.0 0.0

34.2 30.1 38.0 50.0 21.7

Symmetric Asymmetric

0.36 9.870.654.633.334.343.442.44

0.027.644.240.136.74 4.446.045.944.634.432.941.245.543.45

3.330.810.522.91

7.12 0.522.91 0.020.420.222.220.52

5.118.72

Unilateral

0.0 2.3 0.0

0.0 0.0 0.0 9.2 0.0 0.0

4.1

7.7 0.0

Conductive Mixed

0.025.83 0.0 Normal PE 40.5 42.4 40.0 34.9 37.5 69.2 73.7

3.31 0.022.816.71

0.028.02

42.9 30.0

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

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

5.546.836.449.43

4.240.833.84 1.238.446.040.84

4.040.525.54

DFNB1 & other

6.36

0.04

3.85

7.640.05 0.027.12

0.04

4.74

Other testing

0.914.518.32 0 10 20 30 40 50 60 70 80 90 100

4.037.12

8.514.51

6.02

13

147