Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss

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.His25fs18	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.A62Rfs22	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.Ile123fs3	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.Leu201fs3	2	POU	16~30 yo	Yes	N/A	China	HF	Cai et al. [18]
15	c.603_604delGG	p.Val203Aspfs11	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.Gly221Glufsf14	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.Thr227fs13	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	Ile295Thrfs5	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.