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Table 2 Overview of all known cases of MYO15A variations with milder hearing loss phenotype

From: Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss

Ethnic Origin

References

Zygosity

cDNA (NM_016239.3)

Protein change (NP_057323.3)

Variant type

Exon/introna

Protein domain

Hearing impairment phenotype

Age of onset(year)

Severity (PTA)

Type of audiometry

China

This study

Het

c.4666G > A

p.Ala1556Thr

missense

15

Motor

Pretlingual(5) Progressive

Severe /residual hearing of low frequencies

down-sloping

c.6177 + 1G > T

Splice site

splicing

28

MyTH4 1

China

This study

Het

c.855dupT

p.Pro286Serfs*15

frameshift

2

N-terminal

Congenital

Severe /residual hearing of low frequencies

down-sloping

c.3524dupA

p.Ser1176Valfs*14

frameshift

2

N-terminal

c.7822G > A

p.Asp2608Asn

missense

41

Other

Iran

Mehregan,2018

Hom

c.6436C > T

p.Arg2146Trp

missense

30

MyTH4 1

Pre-lingual

Moderate to severe

down-sloping

Korea

Chang, 2018

Het

c.5504G > A

p.Arg1835His

missense

22

Motor

Post-lingual, Progressive

Severe /residual hearing of low frequencies

down-sloping

c.10245_10247delCTC

p.Ser3417del

missense

64

FERM 2

Korea

Chang, 2018

Het

c.9790C > T

p.Gln3264*

nonsense

60

FERM 2

Post-lingual, progressive

Severe /residual hearing of low frequencies

down-sloping

c.10263C > G

p.Ile3421Met

missense

64

FERM 2

Pakistan

Naz,2017

Hom

c.3866 + 1G > A

Splice site

splicing

5

Motor

NA

Moderate

NA

Pakistan

Naz,2017

Hom

c.8158G > A

p.Asp2720His

missense

45

FERM 1

NA

Moderate

NA

China

Li, 2016

Hom

c.3524dupA

p.Ser1176Valfs*14

frameshift

2

N-terminal

Congenital

Severe/ residual hearing of low frequencies

down-sloping

NA

Sloan,2016

Het

c.7550C > G

p.Thr2517Ser

missense

39

Other

Congenital

Mild moderate asymmetric

NA

c.8812G > A

p.Gly2938Arg

missense

51

SH3

NA

Sloan,2016

Het

c.4310A > G

p.Tyr1437Cys

missense

11

Motor

Postlingual Childhood

Mild moderate

NA

c.10202G > A

p.Arg3401His

missense

63

FERM 2

Iran

Sloan,2015

NA

c.2759G > A

p.Trp920*

nonsense

2

N-terminal

Congenital

Moderate

NA

Iran

Sloan,2015

NA

c.4907_4909delAGG

p.Glu1637del

indel

17

Motor

Post-lingual

Severe to profound

NA

Iran

Sloan,2015

NA

c.5810G > A

p.Arg1937His

missense

24

IQ

Post-lingual

Severe

NA

Iran

Sloan,2015

NA

c.6437G > A

p.Arg2146Gln

missense

30

MyTH4 1

Postlingual

Severe

NA

Iran

Sloan,2015

NA

c.8467G > A

p.Asp2823Asn

missense

48

FERM1

Congenital

Moderate

NA

China

Gu,2015

Het

c.4322G > T

p.Gly1441Val

missense

12

Motor

Congenital

Severe / residual hearing of low frequencies

down-sloping

c.4898 T > C

p.Ile1633Thr

missense

17

Motor

China

Gu,2015

Het

c.3892G > A

p.Ala1298Thr

missense

6

Motor

Congenital

Severe/ residual hearing of low frequencies

down-sloping

c.8450G > A

p.Arg2817His

missense

47

FERM1

Japan

Miyagawa,2015

Het

c.535G > T

p.Glu179*

nonsense

2

N-terminal

Congenital

Moderate

down-sloping

c. 9413 T > A

p.Leu3138Gln

missense

57

MyTH4 2

Japan

Miyagawa,2015

Het

c.5978G > A

p.Arg1993Glu

missense

27

Other

Postlingual(8)

Severe/ residual l hearing of low frequencie

down-sloping

c. 9517G > A

p. Gly3173Arg

missense

57

Other

Japan

Miyagawa,2015

Het

c.5978G > A

p.Arg1993Glu

missense

27

Other

Postlingual(10)

Severe/ residual l hearing of low frequencie

down-sloping

c.6487delG

p.Ala2153Profs*100

frameshift

30

MyTH4 1

Japan

Miyagawa,2015

Het

c.6703 T > C

p.Ser2235Pro

missense

32

Other

Postlingual(12)

Moderate/ residual l hearing of low frequencies

down-sloping

c.10263C > G

p.Ile3421Met

missense

64

FERM 2

Japan

Miyagawa,2015

Het

c. 9413 T > A

p.Leu3138Gln

missense

57

MyTH4 2

Congenital

Profound / residual hearing of low frequencies

down-sloping

c.9478C > T

p. Leu3160Phe

missense

57

MyTH4 2

Qatar

Vozzi, 2014

Hom

c.453_455delCGAinsTGGACGCCTGGTCGGGCAGTGG

p.Glu152Glyfs*81

frameshift

2

N-terminal

Progressive

Profound

flat

German

Vona,2014

Het

c.1137delC

p.Tyr380Metfs*65

frameshift

2

N-terminal

Pre-lingual(3) Progressive

Normal between 0.125 and 0.25 kHz/ steeply sloping to severe HL

down-sloping

c.7124_7127delACAG

p.Asp2375Valfs*29

frameshift

35

other

Iran

Fattahi,2012

Hom

c.5305A > G

p.Thr1769Ala

missense

20

Motor

Congenital

Severe to profound /residual hearing of low frequencies

down-sloping

Iran

Fattahi,2012

Hom

c.5925G > A

p.Trp1975*

nonsense

26

Other

Congenital

Severe to profound/residual hearing of low frequencies

down-sloping

Iran

Fattahi,2012

Het

c.5419-21delT

p.Phe1807Leu fs*6

frameshift

22

Motor

Congenital

Severe to profound/residual hearing of low frequencies

down-sloping

c.1387A > G;

p.Met463Val

missense

2

N-terminal

Iran

Fattahi,2012

Hom

c.8467G > A

p.Asp2823Asn

missense

48

FERM1

Congenital

Severe to profound/residual hearing of low frequencies

down-sloping

Iran

Fattahi,2012

Hom

c.5810G > A

p.Arg1937His

missense

24

IQ

Congenital

Severe to profound/residual hearing of low frequencies

down-sloping

Iran

Fattahi,2012

Hom

c.4904-4907delGAG

p.Glu1637del

indel

17

Motor

Congenital

Severe to profound/residual hearing of low frequencies

down-sloping

Pakistan

Bashir,2012

Hom

c.1185dupC

p. Glu396Argfs*36

frameshift

2

N-terminal

Congenital

Moderate to severe /residual hearing of low vfrequencies

down-sloping

Turkey

Cengiz,2010

Hom

c.867C > G

p.Tyr289*

nonsense

2

N-terminal

Progressive

Moderately severe/residual hearing of low frequencies

down-sloping

Iran

Shearer,2009

Hom

c.6371G > A

p. Arg2124Gln

missense

30

MyTH4 1

NA

Severe /residual hearing of low frequencies

down-sloping

Pakistan

Nal,2007

Hom

c.3334delG

p.Arg1112Valfs*1124

frameshift

2

N-terminal

Congenital

Severe /residual hearing of low frequencies

down-sloping

  1. a Location of MYO15A splicing variants in introns are shown in italic letters. Abbreviations: NA not available, Hom homozygous variant, Het compound heterozygous variant
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BMC Medical Genetics

ISSN: 1471-2350

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