Table 2. Genotypes and phenotypes of GJB2 in the 216 hearing-impaired subjects with two pathogenic mutations.
| Genotypes | Severity of Hearing Loss (PTA0.5-8k Hz) a | Number | |||
|---|---|---|---|---|---|
| Mild | Moderate | Severe | Profound | ||
| [c.235delC] b / [c.235delC] | 1 | 2 | 23 | 82 | 108 |
| [c.235delC; c.478G>A] / [c.235delC] | 0 | 0 | 0 | 1 | 1 |
| [c.235delC; c.478G>A] / [c.235delC; c.478G>A] | 0 | 0 | 0 | 1 | 1 |
| [c.299_300delAT] / [c.299_300delAT] | 0 | 1 | 0 | 5 | 6 |
| [c.109G>A] / [c.109G>A] | 5 | 13 | 9 | 7 | 34 |
| [c.79G>A;c.109G>A;c.341A>G] / [c.109G>A] | 0 | 2 | 0 | 1 | 3 |
| [c.235delC] / [c.35insG] | 0 | 0 | 0 | 2 | 2 |
| [c.235delC] / [c.35delG] | 0 | 0 | 0 | 1 | 1 |
| [c.235delC] / [c.35G>T;c.79G>A; c.341A>G] | 0 | 0 | 1 | 0 | 1 |
| [c.235delC] / [c.127G>T;c.79G>A; c.341A>G] | 0 | 0 | 0 | 1 | 1 |
| [c.235delC] / [c.139G>T] | 0 | 0 | 0 | 1 | 1 |
| [c.235delC] / [c.176_191del16] | 0 | 1 | 2 | 4 | 7 |
| [c.235delC] / [c.299_300delAT] | 0 | 0 | 4 | 15 | 19 |
| [c.235delC;79G>A] / [c.299_300delAT] | 0 | 0 | 0 | 1 | 1 |
| [c.235delC;79G>A] / [c.439G>A] | 0 | 1 | 0 | 1 | 2 |
| [c.235delC] / [c.512_513insAACG] | 0 | 2 | 1 | 3 | 6 |
| [c.299_300delAT] / [c.139G>T] | 0 | 0 | 0 | 1 | 1 |
| [c.299_300delAT] / [c.176_191del16] | 0 | 0 | 0 | 5 | 5 |
| [c.299_300delAT] / [c.512_513insAACG] | 0 | 0 | 0 | 1 | 1 |
| [c.235delC] / [c.109G>A] | 2 | 1 | 1 | 1 | 5 |
| [c.176_191del16] / [c.109G>A] | 0 | 0 | 0 | 2 | 2 |
| [c.283G>A] / [c.109G>A] | 0 | 0 | 0 | 1 | 1 |
| [c.283G>A; c.79G>A; c.341A>G] / [c.109G>A] | 0 | 0 | 1 | 0 | 1 |
| [c.293G>C] / [c.109G>A] | 0 | 0 | 0 | 1 | 1 |
| [c.299_300delAT] / [c.109G>A] | 0 | 1 | 0 | 2 | 3 |
| [c.427C>T] / [c.109G>A] | 0 | 0 | 1 | 1 | 2 |
| Total | 8 | 24 | 43 | 141 | 216 |
a PTA pure-tone audiometry.
b The pathogenic mutations were in bold.