Table 1.
Prevalence of SLC26A4 mutations in large (n > 30 individuals) EVA cohorts with a predominant Caucasian ethnicity. The number and % of patients with biallelic (M2), monoallelic (M1), or no mutations (M0) in the SLC26A4 gene in a given cohort is indicated.
| Probands (n) | M2 | M1 | M0 | Reference |
|---|---|---|---|---|
| 58 | 9 (16%) | 14 (24%) | 35 (60%) | [79] |
| 39 | 14 (36%) | 14 (36%) | 11 (28%) | [80] |
| 100 | 24 (24%) | 16 (16%) | 60 (60%) | [81] |
| 429 | 57 (13%) | 75 (17%) | 297 (69%) | [82] |
| 474 1 | 66 (14.5%) | 89 (19.5%) | 303 (66%) | [83] |
| 83 | 20 (24%) | 16 (19%) | 47 (57%) | [75] |
| 85 | 7 (8%) | 17 (20%) | 61 (72%) | [84] |
| 123 2 | 32 (26%) | 15 (12%) | 76 (62%) | [72] |
| 115 | 87 (76%) | 16 (14%) | 12 (10%) | [85] |
| 66 | 40.2% | 17.5% | 42.1 | [86] |
| Average | 28% | 19.5% | 52.5% |
1 Overall, 125 patients had Mondini dysplasia and 349 had EVA. 2 Expansion of the cohort originally described by King et al. [75]. The subjects of this study are cochlear implant recipients.