TABLE 3.
POU4F3 gene mutations found in patients with DFNB15
| Nucleotide change | Protein change | Exon | Domain | Ethnicity | Age of HL diagnosis | Severity of HL | Progression of HL | Audiometric configuration | Reference |
|---|---|---|---|---|---|---|---|---|---|
| Whole deletion of POU4F3 | Brazil | 11‐13 y | Moderate to profound | Yes | Flat and HF | 29 | |||
| c.74dupA | p.His25fs*18 | 1 | Japan | 20's | Profound | Yes | HF | 21 | |
| c.120+1G>T | 1 | China | 0‐40 y | Moderate to profound | Yes | Flat | 31 | ||
| c.191A>T | p.Asp64Val | 2 | Japan | 10‐30 y | Moderate to profound | Yes | HF | 21 | |
| c.337C>T | p.Gln113Ter | 2 | China | 14‐40 y | Moderate to severe | Yes | Flat and HF | 24 | |
| c.367delA | p.Ile123fs*3 | 2 | Japan | 40's | Moderate | Yes | MF | 21 | |
| c.427C> | p.Gln143Ter | 2 | Japan | 3 y | Moderate | NA | MF | 21 | |
| c.491C>G | p.Pro164Arg | 2 | POU | China | NA | Mild to profound | NA | Flat and HF | 14 |
| c.574G>T | p.Glu192Ter | 2 | POU | Japan | 17‐30's | Moderate | Yes | MF | 21 |
| c.581T>A | p.Phe194Tyr | 2 | POU | Japan | 10‐20 y | Moderate | Yes | MF and HF | 21 |
| c.593G>A | p.Arg198His | 2 | POU | China | 28‐56 y | Severe | Yes | Flat | This study |
| c.602T>C | p.Leu201Pro | 2 | POU | China | 10's | Mild to profound | Yes | MF | 25 |
| c.602delT | p.Leu201fs | 2 | POU | China | 16‐30 y | Mild to profound | Yes | HF | 32 |
| c.603_604delGG | p.Val203fs | 2 | POU | China | NA | NA | NA | NA | 33 |
| c.662_675del14 | p.Gly221fs | 2 | POU | Korea | 20 y | Severe | NA | HF | 22 |
| c.665C>T | p.Ser222Leu | 2 | POU | Japan | 6 y | Moderate | Yes | HF | 21 |
| c.668T>C | p.Leu223Pro | 2 | POU | Netherland | 4‐44 y | Mild to severe | Yes | Flat, MF and HF | 13 |
| c.680delC | p.Thr227fs*13 | 2 | POU | Japan | Infant | Moderate to severe | Yes | MF and HF | 21 |
| c.694G>A | p.Glu232Lys | 2 | POU | Korea | 20's | Moderate to severe | NA | HF | 34 |
| c.704_705del | p.Thr235fs | 2 | POU | China | 27‐63 y | Profound | Yes | Flat | This study |
| c.718A>T | p.Asn240Tyr | 2 | POU | Japan | 6 y | Moderate | Yes | MF | 21 |
| c.841A>G | p.Ile281Val | 2 | POU Homeobox | Japan | 50‐54 y | Moderate | Yes | HF | 21 |
| c.865C>T | p.Leu289Phe | 2 | POU Homeobox | Netherland | 13‐20 y | Mild to profound | Yes | Flat, MF and HF | 13 |
| c.884_891del8 | p.Ile295fs | 2 | POU Homeobox | Israel | 18‐30 y | Moderate to severe | Yes | HF | 12 |
| c.896C>T | p.Pro299Leu | 2 | POU Homeobox | Japan | 26‐27 y | Moderate to profound | Yes | Flat, MF and HF | 21 |
| c.932T>C | p.Leu311Pro | 2 | POU Homeobox | China | 10‐20 y | Moderate to profound | Yes | HF | 31 |
| c.976A>T | p.Arg326Ter | 2 | POU Homeobox | Japan | Childhood | Moderate | Yes | HF | 21 |
| c.977G>A | p.Arg326Lys | 2 | POU Homeobox | Korea | 10‐50's | Mild to moderate | Yes | Flat and HF | 15 |
| c.982A>G | p.Lys328Glu | 2 | POU Homeobox | Taiwan | 10's | Profound | Yes | HF | 23 |
| c.1007delC | p.Ala336fs | 2 | POU Homeobox | Japan | 0 y | Moderate to severe | Yes | NA | 30 |