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Table 5 Overview of published variants of the MYO15A in NSHL patients

From: Analysis of the genotype–phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients

Exon

Domain

Nucleotide Change

Amino Acid Change

Age of Onset

Hearing Levela

ACMG Classificationb

Origin of Family

Reference

2

N-terminal

c.373_374delCG

p.Arg125Valfs*101

Profound

Ashkenazi, Jewish

Brownstein (2011)

2

N-terminal

c.419del

p.Lys140Serfs*304

Profound

Zhang (2019)

2

N-terminal

c.453_455delCGAinsTGGACGCCTGGTCGGGCAGTGG

p.Glu152Glyfs*81

Progressive

Mild and Profound

Qatar

Vozzi (2014)

2

N-terminal

c.514C > T

p.Leu172Phe

LP

Japan

Miyagawa (2013)

2

N-terminal

c.535G > T

p.Glu179Ter

Congenital

Moderate and severe

P

Korea, Japan

Park (2014), Miyagawa (2015)

2

N-terminal

c.554G > A

p.Gly185Asp

U

Japan

Miyagawa (2013)

2

N-terminal

c.613 T > C

p.Phe205Leu

U

Japan

Miyagawa (2013)

2

N-terminal

c.625G > T

p.Glu209Ter

Severe to profound

P

Zhang (2019)

2

N-terminal

c.671A > G

p.Tyr224Cys

U

Japan

Miyagawa (2013)

2

N-terminal

c.742C > G

p.Arg248Gly

P

Rehman (2016)

2

N-terminal

c.855dup

p.Pro286Serfs*15

Congenital

Severe to profound

P

China

Zhang (2019)

2

N-terminal

c.867C > G

p.Tyr289Ter

Congenital or prelingual, progressive

Moderate to severe/R

P

Turkey

Cengiz (2010)

2

N-terminal

c.1047C > A

p.Tyr349Ter

P

Russian

Imtiaz (2011)

2

N-terminal

c.1047C > T

p.Tyr349 = 

LB

Saudi Arabia

Sloan-Heggen (2015), Imtiaz (2011)

2

N-terminal

c.1137delC

p.Tyr380Metfs*65

Prelingual progressive

Normal between 0.125 and 0.25 kHz/S

P

German

Vona (2014)

2

N-terminal

c.1171_1177dupGCCATCT

p.Tyr393Cysfs*41

Congenital

Severe to profound

P

Oman

Palombo (2017)

2

N-terminal

c.1185dupC

p.Glu396Argfs*36

10–14 y congenital

Moderate to profound/R

P

Pakistan, Japan

Bashir (2012), Miyagawa (2013)

2

N-terminal

c.1223C > T

p.Ala408Val

P

Brownstein (2014)

2

N-terminal

c.1387A > G

p.Met463Val

Congenital

Severe to profound/R

C

Iran

Fattahi (2012)

2

N-terminal

c.1454 T > C

p.Val485Ala

C

Sloan-Heggen (2015)

2

N-terminal

c.1634C > T

p.Ala545Val

C

Sloan-Heggen (2015)

2

N-terminal

c.1651G > A

p.Ala551Thr

Congenital

Severe to profound

U

-

Zhang (2019)

2

N-terminal

c.2456C > A

p.Ser819Ter

Congenital

Severe to profound

LP

Pakistan

Richard (2019)

2

N-terminal

c.2516del

p.Pro839Argfs*24

P

Iran

Sloan-Heggen (2015)

2

N-terminal

c.2759G > A

p.Trp920Ter

Congenital

Moderate

Iran

Sloan-Heggen (2015)

2

N-terminal

c.3020C > A

p.Pro1009His

Congenital

China

Yang (2013)

2

N-terminal

c.3026C > A

p.Pro1009His

Congenital

C

China

Yang (2013)

2

N-terminal

c.3313G > T

p.Glu1105Ter

Congenital

Profound

P

Pakistan

Nal (2007), Miyagawa (2013)

2

N-terminal

c.3334delG

p.Arg1112fs*1124

Congenital

Mild to Profound/R

Pakistan

Nal (2007), Miyagawa (2013)

2

N-terminal

c.3505C > T

p.Arg1169Ter

Congenital

Severe to profound

P

Pakistan

Richard (2019)

2

N-terminal

c.3524dupA

p.Ser1175Valfs*1188

Congenital

Severe/R

P

China

Li (2016)

2

N-terminal

c.3524dup

p.Ser1176Valfs*14

Congenital

Mild

P

China

Zhang (2019)

2

Motor

c.3685C > T

p.Gln1229Ter

Congenital

Profound

P

Pakistan

Liburd (2001)

Intron 4

Motor

c.3756 + 1G > T

p.Asp1232fs*1241

Congenital

Profound

P

Pakistan

Liburd (2001)

4

Motor

c.3742C > T

p.Arg1248Thr

Congenital

Severe

U

China

Zhang (2019)

4

Motor

c.3758C > T

p.Thr1253Ile

Congenital

Severe to profound

P

India

Nal (2007)

Intron 5

Motor

c.3866 + 1G > A

p.Thr1253fs*1277

Congenital

Moderate to profound

P

Pakistan

Nal (2007), Naz (2017)

5

Motor

c.3844C > T

p.Arg1282Trp

Congenital

Severe to profound

U

Netherlands

Neveling (2013)

6

Motor

c.3866dupC

p.His1290Alafs*25

Congenital

Severe to profound

U

China

Bai (2019)

6

Motor

c.3871C > T

p.Leu1291Phe

Congenital

Severe

P

Zhang (2019)

6

Motor

c.3892G > A

p.Ala1298Thr

Congenital

Mild to Severe/R

China

Gu (2015)

6

Motor

c.3932 T > C

p.Ile1311Thr

LP

Zhang (2019)

6

Motor

c.3944G > A

p.Gly1315Glu

P

Zhang (2019)

8

Motor

c.4072G > A

p.Gly1358Ser

Second decade

Moderate and severe

 

Japan

Miyagawa (2015)

9

Motor

c.4176C > A

p.Tyr1392Ter

Severe to profound

P

Pakistan, Iran

Nal (2007), Sloan-Heggen (2015)

9

Motor

c.4198G > A

p.Val1400Met

Congenital or prelingual

Severe to profound

P and L

Turkey

Manzoli (2016), Cengiz (2010)

11

Motor

c.4216G > A

p.Glu1406Lys

LP

Japan

Miyagawa (2013)

10

Motor

c.4240G > A

p.Glu1414Lys

P

Palestinian, Arab

Brownstein (2011)

11

Motor

c.4252G > A

p.Gly1418Arg

Congenital

Moderate

P

China

Zhang (2019)

10

Motor

c.4273C > T

p.Gln1425Ter

P and LP

Turkey

Miyagawa (2015)

11

Motor

c.4310A > G

p.Tyr1437Cys

Postlingual childhood

Mild moderate

U

Iran

Sloan-Heggen (2015)

11

Motor

c.4313 T > C

p.Leu1438Pro

Congenital

Severe to profound

P

Zhang (2019)

Intron 11

Motor

c.4320 + 1G > A

P and LP

Korea

Park (2014), Woo (2013)

12

Motor

c.4322G > T

p.Gly1441Val

Congenital

Mild and Severe/R

P and LP

Japan; China

Miyagawa (2013), Gu (2015), Moteki (2016)

11

Motor

c.4351G > A

p.Asp1451Asn

Severe to profound

P and LP

India

Nal (2007)

11

Motor

c.4441 T > C

p.Ser1481Pro

Congenital or prelingual

Severe to profound

P and LP

Turkey

Cengiz (2010), Diaz-Horta (2012)

13

Motor

c.4519C > T

p.Arg1507Ter

Congenital

Severe to profound

P

Iran

Sarmadi (2020)

13

Motor

c.4528C > T

p.Gln1510Ter

P and LP

Pakistan

Sloan-Heggen (2015)

13

Motor

c.4642G > A

p.Ala1548Thr

Congenital

Severe to profound

P

China

Chen (2016)

13

Motor

c.4652C > A

p.Ala1551Asp

Turkey

Miyagawa (2015)

Intron 14

Motor

c.4655 + 1G > A

P and LP

Iran

Sloan-Heggen (2015)

15

Motor

c.4666G > A

p.Ala1556Thr

mild

U

China

Zhang (2019)

15

Motor

c.4669A > G

p.Lys1557Glu

Severe to profound

Pakistan

Nal (2007)

15

Motor

c.4747 T > C

p.Ser1583Pro

Congenital

Profound

China

Zhang (2019)

15

Motor

c.4777G > A

p.Glu1593Lys

U

Sloan-Heggen (2015)

15

Motor

c.4780G > C

p.Asp1594His

Congenital

Severe to profound

P

Zhang (2019)

15

Motor

c.4823C > A

p.Ala1608Glu

Congenital

Profound

China

Zhang (2019)

16

Motor

c.4828G > A

p.Glu1610Lys

U

Japan

Miyagawa (2013)

17

Motor

c.4888C > G

p.Arg1630Gly

U

Japan

Miyagawa (2013)

17

Motor

c.4898 T > C

p.Ile1633Thr

Congenital

Severe/R

U

China, Pakistan

Gu (2015), Rehman (2016)

17

Motor

c.4904_4907delGAG

p.Gly1637del

Postlingual

Severe to profound

P and LP

Iran

Fattahi (2012)

17

Motor

c.4952C > T

p.Ser1651Leu

U

Sloan-Heggen (2015)

16

Motor

c.4998G > A

p.Cys1666Ter

Tunisia

Belguith (2009)

18

Motor

c.5087dup

p.Pro1697Alafs*2

Congenital

Severe to profound

P

Zhang (2019)

18

Motor

c.5117_5118GC > TT

p.Leu1706Val

Severe to profound

Pakistan

Belguith (2009)

19

Motor

c.5141A > T

p.Leu1714Met

Congenital

Moderate

U

Zhang (2019)

18

Motor

c.5189 T > C

p.Gly1730Pro

Severe to profound

Pakistan

Nal (2007)

19

Motor

c.5203C > T

p.Arg1735Trp

U

Zhang (2019)

19

Motor

c.5212-2A > G

U

Turkey

Atik (2015)

20

Motor

c.5287C > T

p.Arg1763Trp

B

Netherlands

Neveling (2013)

20

Motor

c.5305A > G

p.Thr1769Ala

Congenital

Severe to profound/R

Iran

Fattahi (2012)

20

Motor

c.5336 T > C

p.Leu1779Pro

Congenital

Profound

U

Algerian

Ammar-Khodja (2015)

22

Motor

c.5417 T > C

p.Leu1806Pro

P

Zhang (2019)

22

Motor

c.5421delT

p.Phe1807Leufs*6

Congenital

Severe to profound /R

Iran

Fattahi (2012)

21

Motor

c.5492G > T

p.Gly1831Val

Severe to profound

P

Turkey

Kalay (2007)

22

Motor

c.5504G > A

p.Arg1835His

Postlingual, progressive

Mild to severe/R

Korea

Chang (2018)

22

Motor

c.5507 T > C

p.Leu1836Pro

Congenital

Profound

China

Zhang (2019)

Intron 22

Motor

c.5650-1G > A

p.Ala1884Ter

Turkey

Duman (2011)

24

Motor

c.5692C > T

p.Arg1898Ter

U

China

Zhang (2019)

23

Motor

c.5808_5814delCCGTGGC

p.Arg1937Thrfs*10

Congenital or prelingual

Severe to profound

P and LP

Turkey

Cengiz (2010)

23

IQ3

c.5809C > T

p.Arg1937Cys

U

Iran, Pakistan

Rehman (2016), Sloan-Heggen (2015)

23

IQ3

c.5810G > A

p.Arg1937His

Postlingual or congenital

Mild and severe to profound/R

P and LP

Iran

Fattahi (2012), Sloan-Heggen (2015)

23

IQ3

c.5835 T > G

p.Tyr1945Ter

Congenital

Profound

P

Korea

Chang (2015)

25

IQ Motif

c.5925G > A

p.Trp1975Ter

Congenital

Severe to profound/R

C

Iran

Fattahi (2012)

Intron 26

IQ Motif

c.5964 + 3G > A

U

China

Gao (2013)

27

IQ Motif

c.5977C > T

p.Arg1993Trp

U

China

Zhang (2019)

27

IQ Motif

c.5978G > A

p.Arg1993Gln

First decade/Postlingual

Mild and severe/R

C

Japan

Miyagawa (2015)

28

IQ Motif

c.6052G > A

p.Gly2018Arg

Mild

B

Zhang (2019)

27

-

c.6061C > T

p.Gln2021Ter

Severe to profound

Pakistan

Nal (2007)

27

IQ Motif

c.6146C > A

p.Pro2049His

Congenital

Severe to profound

P

Zhang (2019)

Intron 27

IQ Motif

c.6178-2A > G

Congenital

Severe to profound

P

Pakistan

Rehman (2016)

28

MyTH4

c.6217C > T

p.Pro2073Ser

Congenital

Profound

U

Iran

Shearer (2009)

29

MyTH4

c.6306_6307insG

p.Ala2104Cysfs*18

China

Yang (2013)

29

MyTH4

c.6331A > T

p.Asn2111Tyr

Congenital

Profound

P

Iran

Wang (1998)

29

MyTH4

c.6337A > T

p.Ile2113Phe

Congenital

Profound

P

Indonesia

Wang (1998)

29

MyTH4

c.6340G > A

p.Val2114Met

P

China

Yang (2013)

30

MyTH4

c.6371G > A

p.Arg2124Gln

Congenital

Mild and severe to profound/R

L

Iran

Shearer (2009)

30

MyTH4

c.6437G > A

p.Arg2146Gln

Postlingual

Mild and severe

P and LP

Korea; Iran

Sloan-Heggen (2015), Woo (20,130

30

MyTH4

c.6436C > T

p.Arg2146Trp

Mild

U

Zhang (2019)

30

MyTH4

c.6487delG

p.Ala2153Profs*100

Prelingual

Mild to profound/R

P and LP

Japan

Miyagawa (2015)

30

MyTH4

c.6589C > T

p.Gln2197Ter

P

Pakistan

Rehman (2016)

30

MyTH4

c.6614C > T

p.Thr2205Ile

Congenital

Moderate

U

North America

Liburd (2001)

31

MyTH4

c.6634G > A

p.Glu2212Leu

 

Moderate

U

Zhang (2019)

32

-

c.6703 T > C

p.Ser2235Pro

Second decade/postlingual

Moderate/R

U

Japan

Miyagawa (2015)

31

-

c.6731G > A

p.Gly2244Glu

Prelingual

Severe to profound

P and LP

Pakistan, Japan

Nal (2007), Miyagawa (2015)

Intron 32

-

c.6764 + 2 T > A

P and LP

Netherlands

Sloan-Heggen (2015), Neveling (2013)

33

-

c.6787G > A

p.Gly2263Ser

U

Sloan-Heggen (2015)

31

-

c.6796G > A

p.Val2266Met

Severe to profound

U

Pakistan, Turkey

Nal (2007)

33

-

c.6845A > G

p.Tyr2282Cys

U

Zhang (2019)

33

-

c.6893G > A

p.Arg2298Gln

LP

Sloan-Heggen (2015)

Intron 33

-

c.6956 + 9C > G

U

Yang (2013)

34

-

c.7047del

p.Tyr2350Thrfs*67

Congenital

Profound

P

Zhang (2019)

35

-

c.7124_7127delACAG

p.Asp2375Valfs*29

Prelingual progressive

Severe

P and LP

Germany

Vona (2014)

Intron 36

-

c.7395 + 3G > C

Severe to profound

U

Tunisia

Belguith (2009), Riahi (2014)

35

-

c.7207G > T

p.Asp2403Tyr

Congenital

Profound

P

Palestinian Territories

Shahin (2010)

36

-

c.7226del

p.Pro2409Glnfs*8

P

Puerto Rico

Sloan-Heggen (2015), Bademci (2016)

39

-

c.7550C > G

p.Thr2517Ser

Congenital

Mild moderate asymmetric

U

Iran

Sloan-Heggen (2015)

39

-

c.7636C > T

p.Gln2546Ter

Congenital

Profound

U

Zhang (2019)

40

-

c.7679G > A

p.Arg2560Gln

U

Sloan-Heggen (2015)

40

-

c.7708_7709insCA

p.Gln2571Hisfs*35

Congenital

Profound

China

Zhang (2019)

39

SnAPC2 like

c.7801A > T

p.Lys2601Ter

Congenital

Profound

P

India

Wang (1998)

41

-

c.7822G > A

p.Asp2608Asn

Congenital

Profound

U

China

Zhang (2019)

42

-

c.7894G > T

p.Val2632Leu

U

Bademci (2016)

41

SnAPC2 like

c.7982C > A

p.Ser2661Ter

Turkey

Duman (2011)

43

-

c.7990C > A

p.Pro2664Thr

LB

Zhang (2019)

43

-

c.8033_8056del

p.Asn2678Ter

Congenital

Severe

China

Zhang (2019)

43

 

c.8050 T > C

p.Tyr2684His

Congenital

Severe

U

Zhang (2019)

44

FERM

c.8077del

p.Leu2693Cysfs*45

Congenital

Mild to profound

China

Zhang (2019)

44

FERM

c.8090 T > C

p.Val2697Ala

Congenital

Severe

P

Zhang (2019)

46

FERM

c.8148G > T

p.Gln2716His

Congenital

Profound

P

Pakistan

Liburd (2001)

43

FERM

c.8158G > C

p.Asp2720His

Moderate to profound

P and LP

Pakistan

Nal (2007), Naz (2017)

43

-

c.8183G > A

p.Arg2728His

Congenital

P and LP

Jewish, China

Yang (2013), Brownstein (2011)

43

-

c.8198A > C

p.Glu2733Ala

Congenital

Profound

Japan

Miyagawa (2015)

45

-

c.8222 T > C

p.Phe2741Ser

P

Zhang (2019)

Intron 45

-

c.8224 + 3A > G

splice site

LP

Pakistani

Richard (2019)

46

-

c.8309_8311del

p.Glu2770del

P and LP

Turkey, Iran

Sloan-Heggen (2015), Bademci (2016)

43

-

c.8324G > A

p.Arg2775His

China

Yang (2013)

46

-

c.8340G > A

p. Thr2780Thr

Congenital

Profound

P

Israel

Danial-Farran (2018)

47

-

c.8375 T > C

p.Val2792Ala

P

China

Gao (2013)

47

FERM

c.8445_8448delCCTG

p.Val2815Valfs*10

Congenital

Severe to profound

P

Iran

Sarmadi (2020)

47

FERM

c.8450G > A

p.Arg2817His

Congenital

Mild to severe/R

U

China

Gu (2015)

47

FERM

c.8457C > G

p.Tyr2819Ter

P

Zhang (2019)

48

FERM

c.8467G > A

p.Asp2823Asn

Congenital

Moderate to profound/R

P and LP

Iran

Fattahi (2012), Sloan-Heggen (2015)

49

SH3

c.8707C > T

p.Arg2903Ter

Congenital

Profound

U

Zhang (2019)

50

SH3

c.8725G > A

p.Gly2909Ser

Congenital

Profound

P

Zhang (2019)

48

SH3

c.8767C > T

p.Arg2923Ter

P and LP

China

Woo (2013)

50

SH3

c.8771G > A

p.Arg2924His

Mild and severe

LB

Zhang (2019)

50

SH3

c.8791del

p.Trp2931Glyfs*103

Congenital

Profound

 

China

Zhang (2019)

51

SH3

c.8812G > A

p.Gly2938Arg

Congenital

Mild moderate asymmetric

U

Iran

Sloan-Heggen (2015)

49

SH3

c.8821_8822insTG

p.Val2940fs*3034

Congenital

Severe to profound

Pakistan

Nal (2007)

49

SH3

c.8899dup

p.Arg2967ProfsTer33

Congenital

Profound

Germany

Budde (2020)

49

SH3

c.8899C > T

p.Arg2967Ter

Congenital

Profound

Germany

Budde (2020)

Intron49

-

c.8968-1G > C

Profound

P

Turkey

Kalay (2007)

52

-

c.9083 + 6 T > A

Congenital

Profound

P

Israel

Danial-Farran (2018)

Intron53

-

c.9229 + 1G > A

Severe to profound

Tunisia

Belguith (2009)

54

MyTH4

c.9221 T > C

p.Met3074Thr

U

Zhang (2019)

56

MyTH4

c.9316dupC

p.H3106Pfs*2

Congenital

Severe to profound

P

China

Xia (2015)

57

MyTH4

c.9400C > T

p.Arg3134Ter

P

Zhang (2019)

57

MyTH4

c.9408G > C

p.Trp3136Cys

U

Zhang (2019)

57

MyTH4

c.9413 T > A

p.Leu3138Gln

Congenital or prelingual

Moderate to Profound/ R

P and LP

Japan

Miyagawa (2015)

59

MyTH4

c.9478C > T

p.Leu3160Phe

Congenital

Severe to profound/ R

U

Pakistan; Japan

Nal (2007), Miyagawa (2013), Miyagawa (2015)

57

MyTH4

c.9517G > A

p.Gly3173Arg

First decade/postlingual

Mild to severe/R

Japan

Miyagawa (2015)

58

MyTH4

c.9534C > G

p.Cys3178Trp

Congenital

Severe to profound

P

Zhang (2019)

58

MyTH4

c.9571C > T

p.Arg3191Cys

Congenital

Severe to profound

P

China

Zhou (2019)

58

MyTH4

c.9572G > A

p.Arg3191His

Congenital

Severe to profound

P

Zhang (2019)

57

MyTH4

c.9584C > G

p.Pro3195Arg

prelingual

Moderate to severe

Iran

Mehregan (2019)

Intron 58

MyTH4

c.9611_9612 + 8del TGGTGAGCAT

p.Leu3204Cysfs*17

Congenital

P

Iran

Akbariazar (2019)

59

MyTH4

c.9620G > A

p.Arg3207His

U

Bademci (2016)

60

FERM

c.9781A > T

p.Asn3261Tyr

U

Miyagawa (2013)

60

FERM

c.9790C > T

p.Gln3264Ter

Postlingual, progressive

Mild to severe/R

Korea

Chang (2018)

61

FERM

c.9908A > G

p.Lys3303Arg

U

Sloan-Heggen (2015)

65

FERM

c.9958_9961delGACT

p.Asp3320Thrfs*2

First decade

Severe to profound

P

Brazil

Lezirovitz (2008)

65

FERM

c.9995_10002dupGCCGGCCC

p.Ser3335Alafs*121

Congenital or prelingual

Severe to profound

P and LP

Turkey

Cengiz (2010)

63

FERM

c.10181C > T

p.Ala3394Val

Congenital

Severe to profound

U

Zhang (2019)

63

FERM

c.10202G > A

p.Arg3401His

Postlingual childhood

Mild moderate

P

Iran

Sloan-Heggen (2015)

64

FERM

c.10245_10247delCTC

p.Ser3417del

Postlingual, progressive

Severe/R

P

Korea

Chang (2018), Miyagawa (2015)

64

FERM

c.10249_10251delTCC

p.Phe3417del

Congenital

Profound

P

Japan

Miyagawa (2015)

64

FERM

c.10258_10260del

p.Phe3420del

Congenital

Profound

P

China

Zhang (2019)

64

FERM

c.10263C > G

p.Ile3421Met

10–19 y/ Postlingual, progressive

Moderate to severe/R

U

Japan/Korea

Chang (2018), Miyagawa (2015)

65

FERM

c.10394G > A

p.Arg3465Gln

U

Sloan-Heggen (2015)

66

FERM

c.10474C > T

p.Gln3492Ter

Severe to profound

P

Pakistan

Nal (2007)

66

FERM

c.10572dup

p.Ser3525fs*79

P

Zhang (2019)

66

FERM

c.10573delA

p.Ser3525fs*29

Prelingual

Severe to profound

P

Brazil

Lezirovitz (2008)

  1. aR residual hearing of low frequencies, S steeply sloping to severe hearing loss
  2. bP pathogenic, LP likely pathogenic, LB likely benign, B benign, U unknown significance
  3. cConflicting interpretations of pathogenicity