Table 1.
Overview of POU4F3 mutations described in DFNA15.
| Number | Nucleotide change | Protein change | Exon | Domain | Origin | Audiometric configuration | Reference |
|---|---|---|---|---|---|---|---|
| (1) | Whole deletion of POU4F3 | Brazil | Flat and HF | Freitas et al., 2014 | |||
| (2) | c.74dupA | p.His25fs∗18 | 1 | Japan | HF | Kitano et al., 2017 | |
| (3) | c.120+1G>C | 1 | China | Flat | He et al., 2016 | ||
| (4) | c.191A>T | p.Asp64Val | 2 | Japan | HF | Kitano et al., 2017 | |
| (5) | c.337C>T | p.Gln113Ter | 2 | China | Zhang et al., 2016 | ||
| (6) | c.367delA | p.Ile123fs∗3 | 2 | Japan | MF | Kitano et al., 2017 | |
| (7) | c.427C>T | p.Gln143Ter | 2 | Japan | MF | Kitano et al., 2017 | |
| (8) | c.491C>G | p.Pro164Arg | 2 | POU | China | Flat and HF | Wei et al., 2014 |
| (9) | c.574G>T | p.Glu192Ter | 2 | POU | Japan | HF | Kitano et al., 2017 |
| (10) | c.581T>A | p.Phe194Tyr | 2 | POU | Japan | HF | Kitano et al., 2017 |
| (11) | c.602T>C | p.Leu201Pro | 2 | POU | China | MF | This study |
| (12) | c.602delT | p.Leu201fs∗3 | 2 | POU | China | HF | Cai et al., 2016 |
| (13) | c.603_604delGG 2 | p.Val203Aspfs∗11 | 2 | POU | China | N/A | Yang et al., 2013 |
| (14) | c.662_675del14 | p.Gly221Glufs∗14 | 2 | POU | Korea | HF | Lee et al., 2010 |
| (15) | c.665C>T | p.Ser222Leu | 2 | POU | Japan | HF | Kitano et al., 2017 |
| (16) | c.668T>C | p.Leu223Pro | 2 | POU | The Netherlands | Flat, MF, and HF | Collin et al., 2008 |
| (17) | c.680delC | p.Thr227fs∗13 | 2 | POU | Japan | MF | Kitano et al., 2017 |
| (18) | c.694G>A | p.Glu232Lys | 2 | POU | Korea | HF | Baek et al., 2012 |
| (19) | c.718A>T | p.Asn240Tyr | 2 | POU | Japan | MF | Kitano et al., 2017 |
| (20) | c.841A>G | p.Ile281Val | 2 | POU Homeobox | Japan | HF | Kitano et al., 2017 |
| (21) | c.865C>T | p.Leu289Phe | 2 | POU Homeobox | The Netherlands | Flat, MF, and HF | Collin et al., 2008 |
| (22) | c.884_891del8 | Ile295Thrfs∗5 | 2 | POU Homeobox | Israel | HF | Vahava et al., 1998 |
| (23) | c.896C>T | p.Pro299Leu | 2 | POU Homeobox | Japan | MF | Kitano et al., 2017 |
| (24) | c.932T>C | p.Leu311Pro | 2 | POU Homeobox | China | HF | He et al., 2016 |
| (25) | c.976A>T | p.Arg326Ter | 2 | POU Homeobox | Japan | HF | Kitano et al., 2017 |
| (26) | c.977G>A | p.Arg326Lys | 2 | POU Homeobox | Korea | HF | Kim et al., 2013 |
| (27) | c.982A>G | p.Lys328Glu | 2 | POU Homeobox | Taiwan | HF | Lin et al., 2017 |
| (28) | c.1007delC | p.Ala336fs | 2 | POU Homeobox | Japan | N/A | Mutai et al., 2013 |
Abbreviations. HF: high-frequency hearing loss; MF: midfrequency hearing loss.