2017 Sec 1 Green Book

Hum Genet (2016) 135:441–450

Table 2   Diagnoses and inheritance patterns in 440 patients with genetic hearing loss

Gene

Total diagnoses

Autosomal dominant

Autosomal recessive Mitochondrial or X-linked

Diagnoses

% Diagnoses

% Diagnoses

% Diagnoses

%

95 71 29 23 21 20 19 18 12 10

21.6 16.1

1

1.6 94

25.3 19.1

GJB2 STRC

71 29

6.6

7.8 2.2 5.6 5.1 5.1 4.8 3.2 2.2 2.4 2.4 2.4 2.2 2.2 0.5 0.3

SLC26A4

5.2 15

23.8

8

TECTA

4.8 4.5 4.3 4.1 2.7 2.3 2.0

21

MYO15A MYO7A USH2A CDH23 ADCRV1

1

1.6 19

19 18 12

2

3.2

8 9 9 9 8 8 2 1

TMC1

9

PCDH15

OTOF

TMPRSS3 LOXHD1

8

1.8

OTOA WFS1

7 6

1.6 1.4

5 5 6 5 4 4

7.9 7.9 9.5 7.9 6.3 6.3

COL11A2 KCNQ4 MYH14 MYO6 ACTG1 PTPRQ MYH9 OTOGL TRIOBP CLDN14

5

1.1

1

0.3

4

0.9

4

1.1

3

0.7

3

4.8

3 3 2

0.8 0.8 0.5

2

0.5

2 2 2

3.2 3.2 3.2

COCH ESPN

EYA4

2

0.5

LRTOMT POU3F4

2 2

40.0 40.0

SMPX TPRN WHRN ALMS1

1

1.6

1 2 1 1

0.3 0.5 0.3 0.3

1

0.2

DFNB59 DIABLO DIAPH1

1 1 1

1.6 1.6 1.6

EYA1

1 1 1

0.3 0.3 0.3

GRXCR1

ILDR1

LHFPL5 MTRNR1 MYO1A SLC17A8 SLC26A5 TSPEAR

1

20.0

1 1

1.6 1.6

1 1 1 1

0.3 0.3 0.3 0.3

USH1C USH1G

13

149