Table 5. Chinese Patients with Bi-allelic Pathogenic variants in SLC26A4.
| Genotypes | Number (%) of patients | Inheritance mode | Clinical information | |
|---|---|---|---|---|
| HL | Onset age(Years) | |||
| Homozygous | ||||
| c.919-2A>G/c.919-2A>G | 50 (7. 19%) | AR * | Moderate, severe, profound | Did not pass NBHS~ 8 |
| c.414delT/c.414delT | 2 (0. 29%) | AR | Profound | 5 months, 1 |
| c.1707+5G>A/c.1707+5G>A | 1 (0. 14%) | AR | Profound | 2 |
| c.2168A>G/c.2168A>G | 1 (0. 14%) | AR | Profound | 2 |
| Compound heterozygous | ||||
| c.919-2A>G/c.2168A>G | 17 (2. 44%) | AR | Moderate, severe, profound | 6 months ~11 |
| c.919-2A>G/c.1975G>C | 9 (1. 29%) | AR | Severe, profound | 2 ~3. 5 |
| c.919-2A>G/c.1174A>T | 3 (0. 43%) | AR | Severe, profound | 2~3 |
| c.919-2A>G/c.1226G>A | 3 (0. 43%) | AR | Profound | 2~3 |
| c.919-2A>G/c.1707+5G>A | 3 (0. 43%) | AR | Severe, profound | 8months~2 |
| c.919-2A>G/c.279T>A | 2 (0. 29%) | AR | Profound | 2, 4 |
| c.919-2A>G/c.754T>C | 2 (0. 29%) | AR | Profound | 2, 7 |
| c.919-2A>G/c.916_917insG | 2 (0. 29%) | AR | Profound | 1. 5, 3 |
| c.919-2A>G/c.1225C>T | 2 (0. 29%) | AR | Severe, profound | 1, 2 |
| c.919-2A>G/c.1229C>T | 2 (0. 29%) | AR | Profound | 2, 4 |
| c.2168A>G/c.1174A>T | 2 (0. 29%) | AR | Severe, profound | 2, 3. 5 |
| c.919-2A>G/c.1343C>T | 2 (0. 29%) | AR | Severe, profound | 2~3 |
| c.2168A>G/c.1927G>T | 2 (0. 29%) | AR | Moderate, severe | 1, 1 |
| c.2168A>G/c.227C>T | 1 (0. 14%) | AR | Severe | 1 |
| c.235C>T/c.1594A>C | 1 (0. 14%) | AR | Profound | 2 |
| c.249G>A/c.1707+5G>A | 1 (0. 14%) | AR | Severe | 2. 5 |
| c.269C>T/c.1229C>T | 1 (0. 14%) | AR | Severe | 4 |
| c.281C>T/c.919-2A>G | 1 (0. 14%) | AR | Severe | 2 |
| c.281C>T/c.1174A>T | 1 (0. 14%) | AR | Profound | 2 |
| c.414delT/c.919-2A>G | 1 (0. 14%) | AR | Profound | 1 |
| c.439A>G/c.2027T>A | 1 (0. 14%) | AR | Profound | 3 |
| c.563T>C/c.919-2A>G | 1 (0. 14%) | AR | Profound | 2 |
| c.563T>C/c.2168A>G | 1 (0. 14%) | AR | Profound | 12 |
| c.589G>A/c.2168A>G | 1 (0. 14%) | AR | Profound | 1. 5 |
| c.754T>C/c.1226G>A | 1 (0. 14%) | AR | Profound | 6 |
| c.916_917insG/c.1975G>C | 1 (0. 14%) | AR | Severe | 1 |
| c.919-2A>G/c.946G>T | 1 (0. 14%) | AR | Profound | 2 |
| c.919-2A>G/c.1079C>T | 1 (0. 14%) | AR | Profound | 2 |
| c.919-2A>G/c.1173C>A | 1 (0. 14%) | AR | Severe | 3 |
| c.919-2A>G/c.1340delA | 1 (0. 14%) | AR | Profound | 4 |
| c.919-2A>G/c.1343C>A | 1(0. 14%) | AR | Severe | 2 |
| c.919-2A>G/c.1371C>A | 1 (0. 14%) | AR | Profound | 1 |
| c.919-2A>G/c.1489G>A | 1 (0. 14%) | AR | Profound | 3 |
| c.919-2A>G/c.1547_1548InsC | 1 (0. 14%) | AR | Severe | 1 |
| c.919-2A>G/c.1586T>G | 1 (0. 14%) | AR | Moderate | 10 |
| c.919-2A>G/c.1673A>T | 1 (0. 14%) | AR | Severe | 3 |
| c.1174A>T/c.1229C>T | 1 (0. 14%) | AR | Severe | 1 |
| c.1225C>T/c.1594A>C | 1 (0. 14%) | AR | Profound | 1 |
| c.1226G>A/c.2168A>G | 1 (0. 14%) | AR | Profound | 1. 5 |
| c.1229C>T/c.2027T>A | 1 (0. 14%) | AR | Profound | 6 months |
| c.1327G>C/c.2168A>G | 1 (0. 14%) | AR | Profound | 1 |
| c.1334T>G/c.1547_1548InsC | 1 (0. 14%) | AR | Profound | 9 months |
| c.1340delA/c.2027T>A | 1 (0. 14%) | AR | Profound | 2 |
| c.1343C>T/c.1975G>C | 1 (0. 14%) | AR | Severe | 3 |
| c.1686_1687insA/c.2168A>G | 1 (0. 14%) | AR | Profound | 1 |
| c.1686_1687insA/c.2027T>A | 1 (0. 14%) | AR | Severe | 2. 5 |
| c.1707+5G>A/c.1975G>C | 1 (0. 14%) | AR | Profound | 3 |
| c.2027T>A/c.2168A>G | 1 (0. 14%) | AR | Severe | 4 |
| Total | 140 (20. 1%) | |||
*AR: Autosomal recessive