Table 1. NGS results from our center.
| No. | Age | Gene | Nucleotide change | Amino acid change | Novel | ACMG criteria | Feature of deafness | Relationship |
|---|---|---|---|---|---|---|---|---|
| 4238 | 1 year | NA | SNHL | |||||
| 4354 | 1 year | POU3F4 | c.346_350dup | p.S117Rfs*26 | Yes | PVS1_Strong, PM2(LP) | SNHL | MATERNAL |
| 5517 | 3 years | POU3F4 | c.421_422delinsTA | p.V141* | Yes | PVS1_Strong, PM2(LP) | Mixed | MATERNAL |
| 12701 | 1 year | POU3F4 | c.441del | p.H147Qfs*94 | Yes | PVS1_Strong, PM2(LP) | SNHL | NA |
| 13276 | 2 years | POU3F4 | c.346dup | p.A116Gfs*77 | Yes | PVS1_Strong, PM2(LP) | NA | NA |
| 14548 | 8 years | NA | SNHL | |||||
| M32 | 5 months | POU3F4 | c.232C>T | p.Q78* | No (Clinvar: 426228) | PVS1_Strong, PM2(LP) | NA | MATERNAL |
| M40 | 7 years | NA | NA | |||||
| J0006 | 6 months | POU3F4 | c.401_404dup | p.Q136Lfs*58 | Yes | PVS1_Strong, PM2(LP) | SNHL | MATERNAL |
| J0007 | 11 years | NA | SNHL | |||||
| J0011 | 2 years | NA | SNHL | |||||
| J0012 | 6 years | NA | SNHL |
Abbreviation: SNHL, sensorineural hearing loss. NA in nucleotide change means no available NGS test; NA in feature of deafness means no audiogram.