Table 1.
Counts of audiometric test results by gene, mutation effect and population. Distinct family counts in parentheses.
| Gene | Mutation Effect | Total | Audiograms European/American | Audiograms Shinshu |
|---|---|---|---|---|
| KCNQ4 | Deletion | 67 (30) | 26 (1) | 41 (29) |
| Frameshift | 66 (29) | 26 (1) | 40 (28) | |
| Insertion | 1 (1) | 0 | 1 (1) | |
| Missense | 523 (37) | 495 (13) | 28 (24) | |
| Nonsense | 2 (1) | 2 (1) | 0 | |
| TECTA | Deletion | 62 (2) | 62 (2) | 0 |
| Frameshift | 0 | 0 | 0 | |
| Insertion | 0 | 0 | 0 | |
| Missense | 152 (41) | 115 (13) | 37 (28) | |
| Nonsense | 0 | 0 | 0 | |
| WFS1 | Deletion | 0 | 0 | 0 |
| Frameshift | 0 | 0 | 0 | |
| Insertion | 0 | 0 | 0 | |
| Missense | 337 (57) | 283 (20) | 54 (37) | |
| Nonsense | 0 | 0 | 0 |
Note that an audiometric test result may be counted for multiple rows, since the associated mutation may have multiple effects (e.g, both deletion and frameshift).