Research Article
Evidence for Central Asian Origin of the p.Val27Ile Variant in the GJB2 Gene
Table 3
GJB2 genotype by degree of hearing impairment in the better ear in 125 Mexican mestizo patients with nonsyndromic hearing impairment.
| | Genotype | Degree of hearing impairment (%) | Total by genotype | | Mild | Moderate | Severe | Profound |
| | p.Val27Ile/wild type | 2 (6.9) | 8 (27.5) | 6 (20.6) | 13 (45) | 29 (100) | | p.Val27Ile/p.Val27Ile | | 2 (50) | 1 (25) | 1 (25) | 4 (100) | | Mutationa/wild type | | 2 (15) | 2 (15) | 9 (70) | 13 (100) | | Wild type/wild type | 5 (6.3) | 22 (28) | 23 (29) | 29 (37) | 79 (100) |
| | Total by degree | 7 (5.6) | 34 (27.2) | 32 (25.6) | 52 (41.6) | 125 (100) |
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Recessive.
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