Table 3 GJB2 genotypes and phenotypes in the 658 unrelated patients

Biallelic mutations

94

c.35delG/c.235delC

1

1

Prelingual

c.109G > A/c.109G > A

8

2

2

4

Post (2), pre (6)

c.176del16/c.176del16

7

3

4

Prelingual

c.176del16/c.235delC

5

1

4

Prelingual

c.176del16/c.299delAT

3

3

Prelingual

c.235delC/c.235delC

52

1

11

40

Prelingual

c.235delC/c.299delAT

4

4

Prelingual

c.257C > G/c.605ins46

2

2

Prelingual

c.299delAT/c.299delAT

12

1

1

10

Prelingual

Heterozygous mutations

70

c.35delG

1

1

Prelingual

c.109G > A

7

2

3

2

Post (3), pre (4)

c.176del16

6

1

5

Prelingual

c.235delC

40

3

8

29

Post (8), pre (32)

c.299delAT

12

1

3

8

Prelingual

c.504insAAGG

2

1

1

Prelingual

c.608TC > AA

2

1

1

Prelingual

Polymorphism and unknown

152

c.79G > A

64

13

22

29

Post (3), pre (61)

c.101 T > C

3

1

1

1

Post (1), pre (2)

c.79G > A/c.79G > A

49

11

15

23

Post (5), pre (44)

c.79G > A/c.341A > G

9

1

1

7

Prelingual

c.341A > G/c.341A > G

5

2

2

1

Prelingual

c.341A > G/c.341A > G/c.79G > A

2

1

1

Prelingual

c.79G > A/c.368C > A

11

1

1

9

Prelingual

c.368C > A

1

1

Prelingual

c.571 T > C

4

2

2

Prelingual

c.608 T > C/c.608 T > C

4

1

3

Prelingual

No mutations identified

342

28

52

262

Total

658