Table 2.
Mutation spectrum of severe-to-profound non-syndromic hearing loss in Vietnamese pediatric population.
| Gene | Mode of inheritance | Causative pathogenic variants† | Variants of uncertain significance† | Prevalence (%) |
|---|---|---|---|---|
| MYO15A | AR | 2 (3.6%) | 2 (3.6%) | 7.2 |
| GJB2 | AR | 6 (6.9%)* | 6.9 | |
| MYO7A | AR | 2 (3.6%) | 1 (1.8%) | 5.5 |
| SLC26A4 | AR | 4 (4.6%) | 4.6 | |
| TMC1 | AR | 1 (1.8%) | 1.8 | |
| ESPN | AR | 1 (1.8%) | 1.8 | |
| POU3F4 | X-lined | 1 (1.8%) | 1.8 | |
| MYH14 | AD | 1 (1.8%) | 1.8 | |
| EYA1 | AD | 1 (1.8%) | 1.8 | |
| MR-RNR1 | mitochondrial | 1 (1.1%) | 1.1 |
†Number of diagnosis (prevalence, %); *, the homozygous p.V37I variants of GJB2 gene were included; AR, autosomal recessive; AD, autosomal dominant; No, number.