Table 3.
GJB2 genotypes and phenotypes in the 658 unrelated patients
| Genotype | Number of subjects with this genotype |
Phenotype |
Onset |
||
|---|---|---|---|---|---|
| moderate | severe | profound | |||
|
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 | ||||