Table 3 Summary of the clinical features associated with EYA4 mutations from previous studies.

Missense or nonsense

c.152C > T

exon 4

p.S51F

Variable region

N/A

N/A

N/A

N/A

America

Sloan-Heggen, 2016⁷

c.511G > C

exon 8

p.G171R

Variable region

6–50

Yes

mild to severe

flat, HF

China

Liu, 2015⁵

c.863C > A

exon 11

p.S288X

Variable region

N/A N/A

N/A N/A

N/A moderate

N/A flat

Korea

Beak, 2012⁸ Kim, 2015⁹

c.866C > T

exon 11

p.T289M

Variable region

N/A

N/A

N/A

N/A

America

Miszalski-Jamka, 2017¹⁰

c.978C >G

exon 12

p.F326L

Variable region

N/A

N/A

N/A

N/A

Korea

Choi, 2013¹¹

c.1109G > A

exon 13

p.R370H

Eya domain

N/A

N/A

N/A

N/A

Philippines

Truong, 2019¹²

c.1111G > A

exon 13

p.V371M

Eya domain

N/A

N/A

N/A

N/A

Belgium

Sommen, 2016¹³

c.1154C > T

exon 13

p.S385L

Eya domain

N/A

N/A

N/A

N/A

Italy

Cesca, 2018¹⁴

c.1177C > T

exon 13

p.Q393X

Eya domain

N/A

N/A

moderate

HF

Korea

Kim, 2015⁹

c.1223G > A

exon 14

p.R408H

Eya domain

N/A

N/A

N/A

N/A

America

Miszalski-Jamka, 2017¹⁴

c.1301T > A

exon 15

p.I434K

Eya domain

N/A

N/A

N/A

N/A

China

Tan, 2014¹⁵

c.1643C > G

exon 18

p.T548R

Eya domain

19–37

Yes

mild to profound

flat, HF

China

Sun, 2015¹⁶

c.1759C > T

exon 19

p.R587X

Eya domain

N/A

N/A

N/A

N/A

Belgium

Wayne, 2001⁴

c.1810G > T

exon 19

p.G604C

Eya domain

N/A

N/A

N/A

N/A

Netherlands

Neveling, 2013¹⁷

c.1834A > T

exon 19

p.K612X

Eya domain

N/A

N/A

mild to moderate

flat, HF

China

Hu, 2018¹⁸

Splicing

c.84-2A > G

intron 3

N/A

N/A

N/A

N/A

China

Chen, 2016¹⁹

c.1282-12T > A

intron 14

6–30 s

Yes

moderate to severe

flat, HF

Australia

Hildebrand, 2007²⁰

c.1341-19T > A

intron 15

N/A

N/A

N/A

N/A

Germany

Vona, 2014²¹

c.1739-1G > A

intron 18

50

N/A

N/A

N/A

America

Cirino, 2017²²

Deletion

c.464delC

exon 8

Variable region

N/A

N/A

N/A

N/A

Sweden

Neveling, 2013¹⁷

c.1194delT

exon 14

p.Met401Trpfs*3

Eya domain

20 s

Yes

moderate to severe

HF

Korea

Choi, 2016²³

c.1790delT

exon 19

Eya domain

35

Yes

moderate

flat

Japan

Iwasa, 2016²⁴

Insertion

c.579_580insTACC

exon 8

p.Asp194Tyrfs*52

Variable region

N/A

N/A

N/A

N/A

Sweden

Frykholm, 2015²⁵

c.614dupA

exon 9

Variable region

N/A

N/A

N/A

N/A

China

Huang, 2015²⁶

c.1026_1027dupAA

exon 12

Variable region

N/A

N/A

N/A

N/A

America

Wayne, 2001⁴

c.1048_1049dupAA

exon 12

Variable region

20s-40s

Yes

moderate to severe

flat, HF

America

Makishima, 2007²⁷

c.1115_1118dupTTGT

exon 13

Eya domain

N/A

N/A

N/A

N/A

Hungary

Pfister, 2002²⁸

Gross deletion

10.4 Mb promoter and exon 1,2

N/A

N/A

N/A

N/A

Japan

Abe, 2009²⁹

4846 bp intron 10

N/A

N/A

N/A

N/A

America

Schönberger, 2005³⁰

9 Mb exon 4-20

N/A

N/A

N/A

N/A

Poland

Dutrannoy, 2009³¹