Table 2.
Auditory Phenotype According to The Affected Domain
| Nucleotide change | Amino acid change | Affected domain | Inheritance | Hearing loss | Reference |
|---|---|---|---|---|---|
| c.867C>G | p.Tyr289* | N-terminal | Homozygous | *Residual hearing at low frequency | Cengiz et al., 2010 |
| c.867C>G | p.Tyr289* | N-terminal | Homozygous | Profound | Cengiz et al., 2010 |
| c.1185dup | p.Glu396Argfs*36 | N-terminal | Homozygous | *Residual hearing at low frequency | Bashir et al., 2012 |
| c.3313G>T | p.Glu1105* | N-terminal | Homozygous | Severe to profound | Nal et al., 2007 |
| c.3336del | p.Arg1113Valfs*12 | N-terminal | Homozygous | *Residual hearing at low frequency | Nal et al., 2007 |
| c.3685C>T | p.Gln1229* | Motor | Homozygous | Profound | Liburd et al., 2001 |
| c.3756+1G>T | Homozygous | Profound | Liburd et al., 2001 | ||
| c.3758C>T | p.Thr1253Ile | Motor | Homozygous | Severe to profound | Nal et al., 2007 |
| c.3866+1G>A | Homozygous | Severe to profound | Nal et al., 2007 | ||
| c.3871C>T | p.Leu1291Phe | Motor | Heterozygous | Profound | This study |
| c.4176C>A | p.Tyr1392* | Motor | Homozygous | Severe to profound | Nal et al., 2007 |
| c.4198G>A | p.Val1400Met | Motor | Homozygous | Severe to profound | Cengiz et al., 2010 |
| c.4240G>A | p.Glu1414Lys | Homozygous | Profound | Brownstein et al., 2011 | |
| c.4320+1G | Motor | Heterozygous | Severe to profound | Woo et al,.2013 | |
| c.4351G>A | p.Asp1451Asn | Motor | Homozygous | Severe to profound | Nal et al., 2007 |
| c.4441T>C | p.Ser1481Pro | Motor | Homozygous | Severe to profound | Cengiz et al., 2010 |
| c.4669A>G | p.Lys1557Glu | Motor | Homozygous | Severe to profound | Nal et al., 2007 |
| c.4998C>A | p.Cys1666* | Motor | Homozygous | Severe to profound | Belguith et al., 2009 |
| c.5117_5118del | p.Gly1706Glufs*102 | Motor | Homozygous | Severe to profound | Nal et al., 2007 |
| c.5189T>C | p.Leu1730Pro | Motor | Homozygous | Severe to profound | Nal et al., 2007 |
| c.5492G>T | p.Gly1831Val | Motor | Homozygous | Profound | Kalay et al., 2007 |
| c.5808_5814del | p.Arg1937Thrfs*10 | IQ 2 | Homozygous | Severe to profound | Cengiz et al., 2010 |
| c.5835T>G | p.Tyr1945* | IQ 2 | Heterozygous | Profound | This study |
| c.5913G>A | Heterozygous | Severe to profound | Gao et al,.2013 | ||
| c.6061C>T | p.Gln2021* | ? | Severe to profound | Nal et al., 2007 | |
| c.6217C>T | p.Pro2073Ser | MyTH4 1 | Homozygous | Severe to profound | Shearer et al., 2009 |
| c.6308dup | p.Ala2104Cysfs*19 | MyTH4 1 | Heterozygous | Severe to profound | Yang et al., 2013 |
| c.6340G>A | p.Val2114Met | MyTH4 1 | Heterozygous | Severe to profound | Yang et al., 2013 |
| c.6371G>A | p.Arg2124Gln | MyTH4 1 | Homozygous | Severe to profound | Shearer et al., 2009 |
| c.6437G>A | p.Arg2146Gln | MyTH4 1 | Heterozygous | Severe to profound | Woo et al,.2013 |
| c.6614C>T | p.Thr2205Ile | MyTH4 1 | Hemizygous | *Residual hearing at low frequency | Liburd et al., 2001 |
| c.6731G>A | p.Gly2244Glu | Homozygous | Severe to profound | Nal et al., 2007 | |
| c.6796G>A | p.Val2266Met | Homozygous | Severe to profound | Nal et al., 2007 | |
| c.6956+9C>G | Heterozygous | Severe to profound | Yang et al., 2013 | ||
| c.6956+9C>G | Heterozygous | Severe to profound | Yang et al., 2013 | ||
| c.7395+3G>C | Homozygous | Severe to profound | Belguith et al., 2009 | ||
| c.8148G>T | p.Gln2716His | Homozygous | Profound | Liburd et al., 2001 | |
| c.8158G>C | p.Asp2720His | Homozygous | Severe to profound | Nal et al., 2007 | |
| c.8324G>A | p.Arg2775His | Heterozygous | Severe to profound | Yang et al., 2013 | |
| c.8375T>C | p.Val2792Ala | Heterozygous | Severe to profound | Gao et al,.2013 | |
| c.8767C>T | p.Arg2923* | SH3 | Heterozygous | Severe to profound | Yang et al., 2013 |
| c.8821_8822insTG | p.Gly2941Valfs*94 | SH3 | Homozygous | Severe to profound | Nal et al., 2007 |
| c.8968−1G>C | Homozygous | Profound | Kalay et al., 2007 | ||
| c.9229+1G>T | Homozygous | Severe to profound | Belguith et al., 2009 | ||
| c.9478C>T | p.Leu3160Phe | MyTH4 2 | Homozygous | Severe to profound | Nal et al., 2007 |
| c.9958_9961del | p.Asp3320Thrfs*2 | FERM | Heterozygous | Severe to profound | Lezirovitz et al., 2008 |
| c.9995_10002dup | p.Ser3335Alafs*121 | FERM | Homozygous | Severe to profound | Cengiz et al., 2010 |
| c.10258_10260del | p.Phe3420del | FERM | Heterozygous | Severe to profound | Yang et al., 2013 |
| c.10474C>T | p.Gln3492* | FERM | Homozygous | Severe to profound | Nal et al., 2007 |
| c.10573del | p.Ser3525Alafs*29 | FERM | Heterozygous | Severe to profound | Lezirovitz et al., 2008 |
| c.10573del | p.Ser3525Alafs*29 | FERM | Homozygous | Severe to profound | Lezirovitz et al., 2008 |