Table 2.
Summary of all reported pathogenic variants in POU4F3.
| Number | Nucleotide change | Protein change | Exon | Domain | Onset age of hearing loss | Progression | Prevalence | Origin | Audiometric configuration | Reference |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Whole deletion of POU4F3 | 11~13 yo | Yes | N/A | Brazil | Flat and HF | Freitas et al. [13] | |||
| 2 | c.74dupA | p.His25fs∗18 | 1 | ~20 yo | Yes | 15/602 | Japan | HF | Kitano et al. [14] | |
| 3 | c.120+1G>C | 1 | 0~40 yo | Yes | 3/16 | China | Flat | He et al. [15] | ||
| 4 | c.183delG | p.A62Rfs∗22 | 2 | 25~44 yo | Yes | N/A | China | HF | This study | |
| 5 | c.191A>T | p.Asp64Val | 2 | ~30 yo | Yes | 15/602 | Japan | HF | Kitano et al. [14] | |
| 6 | c.325C>T | p.His109Tyr | 2 | 7~30 yo | Yes | N/A | China | HF | This study | |
| 7 | c.337C>T | p.Gln113Ter | 2 | 14~40 yo | Yes | N/A | China | Zhang et al. [16] | ||
| 8 | c.367delA | p.Ile123fs∗3 | 2 | ~40 yo | Yes | 15/602 | Japan | MF | Kitano et al. [14] | |
| 9 | c.427C>T | p.Gln143Ter | 2 | 3 yo | N/A | 15/602 | Japan | MF | Kitano et al. [14] | |
| 10 | c.491C>G | p.Pro164Arg | 2 | N/A | N/A | 1/6 | China | Flat and HF | Wei et al. [17] | |
| 11 | c.574G>T | p.Glu192Ter | 2 | POU | 17~30 yo | Yes | 15/602 | Japan | HF | Kitano et al. [14] |
| 12 | c.581T>A | p.Phe194Tyr | 2 | POU | 20 yo | Yes | 15/602 | Japan | HF | Kitano et al. [14] |
| 13 | c.602T>C | p.Leu201Pro | 2 | POU | >10 yo | Yes | N/A | China | MF | Gao et al. [12] |
| 14 | c.602delT | p.Leu201fs∗3 | 2 | POU | 16~30 yo | Yes | N/A | China | HF | Cai et al. [18] |
| 15 | c.603_604delGG | p.Val203Aspfs∗11 | 2 | POU | N/A | N/A | N/A | China | N/A | Yang et al. [19] |
| 16 | c.635T>C | p.Leu212Pro | 2 | POU | 10~20 yo | Yes | N/A | China | MF | This study |
| 17 | c.662_675del14 | p.Gly221Glufsf∗14 | 2 | POU | 20 yo | N/A | 1/42 | Korea | HF | Lee et al. [20] |
| 18 | c.665C>T | p.Ser222Leu | 2 | POU | 6 yo | Yes | 15/602 | Japan | HF | Kitano et al. [14] |
| 19 | c.668T>C | p.Leu223Pro | 2 | POU | 13~20 yo | Yes | N/A | Netherlands | Flat, MF, and HF | Collin et al. [21] |
| 20 | c.680delC | p.Thr227fs∗13 | 2 | POU | 0 yo | Yes | 15/602 | Japan | MF | Kitano et al. [14] |
| 21 | c.694G>A | p.Glu232Lys | 2 | POU | ~20 yo | N/A | 1/8 | Korea | HF | Baek et al. [22] |
| 22 | c.696G>T | p.Glu232Asp | 2 | POU | 7~22 yo | Yes | N/A | China | HF | This study |
| 23 | c.718A>T | p.Asn240Tyr | 2 | POU | 6 yo | Yes | 15/602 | Japan | MF | Kitano et al. [14] |
| 24 | c.841A>G | p.Ile281Val | 2 | POU homeobox | 50~54 yo | Yes | 15/602 | Japan | HF | Kitano et al. [14] |
| 25 | c.865C>T | p.Leu289Phe | 2 | POU homeobox | 13~20 yo | Yes | N/A | Netherlands | Flat, MF, and HF | Collin et al. [21] |
| 26 | c.884_891del8 | Ile295Thrfs∗5 | 2 | POU homeobox | 18~30 yo | Yes | N/A | Israel | HF | Vahava et al. [11] |
| 27 | c.896C>T | p.Pro299Leu | 2 | POU homeobox | 26~41 yo | Yes | 15/602 | Japan | MF | Kitano et al. [14] |
| 28 | c.932T>C | p.Leu311Pro | 2 | POU homeobox | 10~20 yo | Yes | 3/16 | China | HF | He et al. [2] |
| 29 | c.976A>T | p.Arg326Ter | 2 | POU homeobox | Childhood | Yes | 15/602 | Japan | HF | Kitano et al. [14] |
| 30 | c.977G>A | p.Arg326Lys | 2 | POU homeobox | 10~50 yo | N/A | N/A | Korea | HF | Kim et al. [41] |
| 31 | c.982A>G | p.Lys328Glu | 2 | POU homeobox | N/A | Yes | N/A | Taiwan | HF | Lin et al. [23] |
| 32 | c.1007delC | p.Ala336fs∗ | 2 | POU homeobox | 0 yo | Yes | 1/3 | Japan | N/A | Mutai et al. [24] |
yo: years old; HF: high frequency; MF: middle frequency; N/A: not available.