Additional file
Additional file 1- Patterns of inheritance, mutations selected for the study, and
their respective genes and references.
Inheritance
Autos. Recessive
Gene
GJB2
SLC26A4
MYO15A
OTOF
Alteration
c. -23+1G>A
c.35delG
c.71>A
c.79G>A
c.101T>C
c.109G>A
c.139G>T
c.167delT
c.235delC
c.269T>C
c.279G>A
c.283G>A
c.339T>G
c.385G>A
c.427C>T
c.439G>A
c.457G>A
c.503A>G
c.516G>A
c.550C>G
c.551G>C
c.617A>G
c.279delT
c.412G>T
c.425C>T
c.446G>A
c.578C>T
c.845G>A
c.1001+1G>A
c.1226G>A
c.1229C>T
c.1238A>G
c.1334T>G
c.1707+5G>A
c.1826T>G
c.2326C>T
c.3313G>T
c.3336delG
c.6796G>A
c.9957_9960delTGAC
c.10573delA
c.1552_1567delCGCAAGATTTCTAATG
c.1601delC
c.1841G>A
c.2122C>T
c.2348delG
c.2485C>T
c.2905_2923delinsCTCCGAGCGCA
Protein change
Splicing defect
G12Vfs
p.W24*
p.V27I
p.M34T
p.V37I
p.E47*
p.L56Rfs
p.L79Cfs
p.L90P
p.M93I
p.V95M
p.S113R
p.E129K
p.R143W
p.E147K
p.V153I
p.K168R
p.W172*
p.R184W
p.R184P
p.N206S
p.S93Rfs
p.V138F
p.P142L
p.G149R
p.T193I
p.C282Y
Splicing defect
p.R409H
p.T410M
p.Q413R
p.L445W
Splicing defect
p.V609G
p.R776C
p.E1105*
p.R1113Vfs
p.V2266M
p.D3320Tfs
p.S3525Afs
p.R518Tfs
p.P534Qfs
p.G614E
p.R708*
p.G783Afs
p.Q829*
p.A969Pfs
References
[40]
[41]
[23]
[42]
[24]
[42]
[22]
[41]
[43]
[44]
[45]
[42]
[42]
[46]
[47]
[48]
[49]
[50]
[51]
[52]
[23]
[46]
[53]
[54]
[18]
[55]
[56]
[18]
[57]
[54]
[57]
[58]
[54]
[55]
[59]
[59]
[60]
[60]
[60]
[19]
[19]
[17]
[61]
[17]
[62]
[63]
[64]
[61]
CDH23
TMC1
TMPRSS3
TRIOBP
TMIE
Autos. Dominant
DFNB59
GJB2
WFS1
KCNQ4
COCH
TECTA
miR-96
Mitochondrial
MT-TS1
MT-RNR1
c. 3239G>C
c.3400C>T
c.3413T>C
c.4227-1G>T
c.4491T>A
c.4960G>A
c.5431A>T
c.5785A>C
c.5800_5801dupC
c.719C>T
c.902G>A
c.2968G>A
c.4756G>C
c.5147A>C
c.5237G>A
c.6604G>A
c.6050-9G>A
c.6085C>T
c.6133G>A
c.6442G>A
c.100C>T
c.1165C>T
c.1334G>A
c.1939 T>C
c.207delC
c.323-6G>A
c.413C>A
c.916G>A
c.1221C>T
c.1039C>T
c.241C>T
c.250C>T
c.547C>T
c.224G>A
c.2146G>A
c.827G>C
c.151C>T
c.3107G>A
c.5509T>G
c.5597C>T
c.5668C>T
+13G>A
+14C>A
m.7445A>G
m.1494C>T
m.1555A>G
*stop codon. Alterations in bold were not included in the panel.
p.R1080P
p.R1134*
p.L1138P
Splicing defect
p.Y1497*
p.G1654S
p.K1811*
p.N1929H
p.L1934Pfs
p.P240L
p.R301Q
p.D990N
p.A1586P
p.Q1716P
p.R1746Q
p.D2202N
Splicing defect
p.R2029W
p.D2045N
p.D2148N
p.R34*
p.R389*
p.R445H
p.S647P
p.T70fs
Splicing defect
p.A138E
p.A306T
p.P404L
p.R347*
p.R81C
p.R84W
p.R183W
p.R75Q
p.A716T
p.W276S
p.P51S
p.C1036Y
p.C1837G
p.T1866M
p.R1890C
NA
NA
NA
NA
NA
[17]
[61]
[61]
[61]
[65]
[17]
[17]
[17]
[61]
[66]
[66]
[67]
[68]
[66]
[69]
[67]
[70]
[66]
[67]
[68]
[71]
[72]
[73]
[74]
[75]
[76]
[10]
[77]
[78]
[79]
[80]
[80]
[81]
[82]
[83]
[84]
[85]
[86]
[87]
[88]
[89]
[90]
[90]
[91]
[26]
[92]