Table 4.

List of pathogenic variants in EYA4 identified to date and their hearing loss phenotypes

Exon	Recommended mutation nomenclature*	Amino acid	Variant type	Origin	Age at HL onset	HL degree	Audiogram shape	Variant reported as	Reference
8	c.464delC	p.(Pro155Glnfs*43)	frameshift	Dutch	childhood	moderate	mid- or high-frequency	c.464del	[41]
8	c.511 G > C	p.(Gly171Arg)	missense	Chinese	26–33 years	moderate to severe	gently sloping	c.511 G > C	[42]
8	c.544_545insA	p.(Ser182Tyrfs*63)	nonsense	Chinese	20–40	moderate to profound	high-frequency to flat	c.544_545insA	[43]
8	c.579_580insTACC	p.(Asp194Tyrfs*52)	frameshift	Swedish	4–40 years	mild to profound	variable	c.579_580insTACC	[44]
9–10	c.581_804del	p.(Asp194Glyfs*30)	frameshift	N/A	from schoolage	moderate to profound	mid-frequency	4846-bp deletion	[31]
10	c.804G > C	p.(Gln268His)	missense	Slovak	10–40 years	mild to severe	gently sloping	c.804G > C	this paper
11	c.863 C > A	p.(Ser288*)	nonsense	Korean	N/A	moderate	reverse U-shaped	c.863 C > A	[45]
11	c.978C > G	p.(Phe326Leu)	missense	Korean	N/A	moderate	down-sloping	c.909 C > G	[46]
12	c1026_1027dupAA	p.(Thr343Lysfs*62)	frameshift	North American Caucasian	1st-3rd decade	moderate to profound	gently sloping to flat	c.1468insAA	[36]
12	c.1048_1049dupAA	p.(Arg352Profs*53)	frameshift	North American Caucasian	2nd -4th decade	moderate to severe	mid- to high-frequency	c.1490insAA	[7]
13	c1115_1118dupTTTG	p.(Trp374Cysfs*6)	frameshift	Hungarian	postlingual	up to profound	variable	c.1558insTTTG	[40]
13	c.1154C > T	p.(Ser385Leu)	missense	Italian	postlingual	mild to profound	mid-frequency	c.1154C > T	[47]
13	c.1177C > T	p.(Gln393*)	nonsense	Korean	N/A	moderately severe	mid- and high-frequency	c.1177C > T	[48]
14	c.1194delT	p.(Met401Trpfs*3)	frameshift	Korean	from 1st decade	moderate	down-sloping	c.1194delT	[34]
intron 14	c.1282-12 T > A	splicing effect	splice site	Australian Caucasian	6 years to 4th decade	mild to profound	mid-frequency to flat	c.1282-12 T > A	[38]
15	c. 1301 T > A	p.(Ile434Lys)	missense	Chinese	8–38 years	mild to severe	mid-frequency to flat	c. 1301 T > A	[49]
18	c.1643C > G	p.(Thr548Arg)	missense	Chinese	17–40 years	mild to profound	variable	c.1643C > G	[50]
20	c.1759C > T	p.(Agr587*)	nonsense	Belgian	6–40 years	mild to moderate	mid-frequency	c.2200C > T	[36]

*Nucleotide numbering refers to the EYA4 cDNA sequence NM_004100.4