Table 3. Unclassified GJB2 variants in Patients with NSHL.
Variants | Number of patients | Clinical information | |
---|---|---|---|
HL | Onset age (Years) | ||
Homozygous | |||
c.95G>A/ c.95G>A | 1 | Profound | Unclear |
c.109G>A /c.109G>A | 2 | Mild | 3 |
Profound | 6 months | ||
Heterozygous | |||
c.23C>T | 1 | Severe | 1 |
c.109G>A | 40 | Moderate-profound | Did not pass NBHS*~4 |
c.283G>A | 2 | Severe-profound | 6 months~5 |
c.408C>A | 1 | Profound | 5 |
c.416G>A | 1 | Severe | 6 |
c.571T>C | 2 | Severe, profound | 6 months ~2 |
Total | 50 |
*NBHS: Newborn hearing screening