Table 2 Clinical phenotypes of the novel TMC1 dominant variants and literature review
Variant | Inheritance pattern | Ethnicity | Severity | Configuration | Progression | Tinnitus | Vertigo | Reference | |
|---|---|---|---|---|---|---|---|---|---|
Nucleotide change | Amino acid change | ||||||||
c.1256T > C | p.Phe419Ser | AD | Korean | Moderate | High-frequency SNHL (down-sloping) | NA | Yes | No | This study |
c.1444T > C | p.Trp482Arg | AD | Korean | Moderate | High-frequency SNHL (down-sloping) | Yes | No | No | This study |
c.960 C > G | p.Ser320Arg | AD | Polish | Mild | NA | NA | NA | NA | Mohamed Ahamed Hassan et al. 2015 |
c.1141T > A | p.Tyr381Asn | AD | NA | Moderately severe | High-frequency SNHL (down-sloping) | NA | NA | NA | Tina Likar et al. 2018 |
c.1249G > A | p.Gly417Arg | AD | Iranian | Profound | High-frequency SNHL (down-sloping) | Yes | NA | NA | Tao Yang et al. 2010 |
c.1253T > A | p.Met418Lys | AD | Chinese | Severe | High-frequency SNHL (down-sloping) | Yes | Yes | NA | Yali Zhao et al. 2014 |
c.1265 C > A | p.Thr422Lys | AD | NA | Profound | High-frequency SNHL (down-sloping) | Yes | NA | No | Maryline Beurg et al. 2021 |
c.1627G > A | p.Asp543Asn | AD | Japanese | Severe | High-frequency SNHL (down-sloping) | Yes | Yes | No | Shin-ya Nishio & Shin-ichi Usami 2022 |
c.1714G > A | p.Asp572Asn | AD | Japanese | Moderate | High-frequency SNHL (down-sloping) | NA | NA | NA | Shin-ya Nishio & Shin-ichi Usami 2022 |
c.1714G > C | p.Asp572His | AD | Caucasian | Profound | High-frequency SNHL (down-sloping) | Yes | NA | No | Kitajiri et al. 2007 |