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. 2019 Apr 5;20:60. doi: 10.1186/s12881-019-0790-2

Table 2.

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

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

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