Table 4.
Summary of clinical features associated with OTOA variants from this and previous studies.
| Hereditary | Onset | Average hearing level | Zygosity | Allele #1 | Allele #2 | Reference | ||
|---|---|---|---|---|---|---|---|---|
| AR/Spo | 3y | moderate | homo | whole gene deletion | whole gene deletion | this study | ||
| AR/Spo | childhood | severe | homo | whole gene deletion | whole gene deletion | this study | ||
| AR | prelingual | N/A | homo | whole gene deletion | whole gene deletion | Shahin, 2010 [23] | ||
| AR | N/A | mild to moderate | homo | whole gene deletion | whole gene deletion | Bademci, 2014 [24] | ||
| AR | 0−10y | moderate to severe | homo | Whole gene deletion | whole gene deletion | Shearer, 2014 [9] | ||
| N/A | 21−30y | N/A | homo | whole gene deletion | whole gene deletion | Shearer, 2014 [9] | ||
| AR | prelingual | moderate to severe | homo | whole gene deletion | whole gene deletion | Christina M. Sloan-Heggen, 2015 [13] | ||
| N/A | N/A | N/A | homo | whole gene deletion | whole gene deletion | Christina M. Sloan-Heggen, 2016 [16] | ||
| AD | adult | severe to profound | homo | whole gene deletion | whole gene deletion | Christina M. Sloan-Heggen, 2016 [16] | ||
| Spo | congenital | severe to profound | homo | whole gene deletion | whole gene deletion | Christina M. Sloan-Heggen, 2016 [16] | ||
| AR | 1−13y | severe | homo | 58000bp deletion | 58000bp deletion | Alkowari, 2017 [25] | ||
| AR | prelingual | severe | homo | c.151+1G>A | c.151+1G>A | Christina M. Sloan-Heggen, 2015 [13] | ||
| AR/Spo | 0m | moderate | homo | c.647T>C | p.(Phe216Ser) | c.647T>C | p.(Phe216Ser) | this study |
| AR | prelingual | moderate to severe | homo | c.1025A>T | p.(Asp342val) | c.1025A>T | p.(Asp342val) | Walsh, 2006 [18] |
| AR | prelingual | moderate to severe | homo | c1320+2T>C | c.1320+2T>C | Zwaenepoel, 2002 [10] | ||
| AR | prelingual | severe | homo | c.1352G>A | p.(Gly451Asp) | c.1352G>A | p.(Gly451Asp) | K Lee, 2013 [21] |
| AR | prelingual | severe to profound | homo | c.1807G>T | p.(Val603Phe) | c.1807G>T | p.(Val603Phe) | Ammar-Khodja, 2015 [22] |
| AR | prelingual | severe | homo | c.1879C>T | p.(Pro627Ser) | c.1879C>T | p.(Pro627Ser) | K Lee, 2013 [21] |
| AR | prelingual | moderate to severe | homo | c.1879C>T | p.(Pro627Ser) | c.1879C>T | p.(Pro627Ser) | Christina M. Sloan-Heggen, 2015 [13] |
| AR | prelingual | moderate to severe | homo | c.1939G C | p.(Gly647Arg) | c.1939G>C | p.(Gly647Arg) | Christina M. Sloan-Heggen, 2015 [13] |
| AR | prelingual | moderately severe to profound | homo | c.2201A>G | p.(Gln734Arg) | c.2201A>G | p.(Gln734Arg) | Christina M. Sloan-Heggen, 2015 [13] |
| AR/Spo | 7y | moderate | compound hetero | whole gene deletion | c.235C>T | p.(Arg79Trp) | this study | |
| N/A | 0−10y | N/A | compound hetero | whole gene deletion | c.446C>A | p.(Ala149Asp) | Shearer, 2014 [9] | |
| AR/Spo | 5y | moderate | compound hetero | whole gene deletion | c.469C>T | p.(Arg157Cys) | this study | |
| N/A | 0−10y | N/A | compound hetero | whole gene deletion | c.827delT | p.(Ile276fs) | Shearer, 2014 [9] | |
| Spo | congenital | N/A | compound hetero | whole gene deletion | c.827delT | p.(Ile276fs) | Christina M. Sloan-Heggen, 2016 [16] | |
| AR | childhood | N/A | compound hetero | whole gene deletion | c.1282G>T | p.(Val428Phe) | Cabanillas, 2018 [20] | |
| AD | congenital | N/A | compound hetero | whole gene deletion | c.1728T>G | p.(Ile576Met) | Christina M. Sloan-Heggen, 2016 [16] | |
| AR/Spo | congenital | moderate | compound hetero | whole gene deletion | c.1705A>G | p.(Lys569Glu) | this study | |
| Spo | childhood | severe to profound | compound hetero | whole gene deletion | c.1807G>T | p.(Val603Phe) | Christina M. Sloan-Heggen, 2016 [16] | |
| Spo | congenital | mild to moderate | compound hetero | whole gene deletion | c.1814G>C | p.(Cys605Ser) | Christina M. Sloan-Heggen, 2016 [16] | |
| AR | prelingual | severe | compound hetero | whole gene deletion | c.1865T>A | p.(Leu622His) | P Fontana, 2017 [15] | |
| N/A | N/A | N/A | compound hetero | multi exon deletion | c.1249C>T | p.(Leu417Phe) | Tsai, 2013 [19]t | |
| AR/Spo | 0m | moderate | compound hetero | deletion | c.442C>T | p.(Arg148*) | this study | |
| AR | prelingual | N/A | compound hetero | deletion | c.2960_2961delAT | p.His987fs | Sommen, 2016 [14] | |
| Spo | before 6 years | moderate | compound hetero | micro deletion | c.878A>G | p.(Gln293Arg) | L. He, 2018 [17] | |
| Spo | congenital | mild to moderate | compound hetero | c.131T>C | p.(Ile44Thr) | c.313A>T | p.(Lys105*) | Christina M. Sloan-Heggen, 2016 [16] |
| AR | prelingual | N/A | compound hetero | c.827delT | p.(Ile276fs) | c.2960_2961delAT | p.(His987fs) | Sommen, 2016 [14] |
| AR | congenital | moderate | compound hetero | c.1320+5G>C | c.1765delC | p.(Gln589fs) | Bong Jik Kim, 2019 [12] |
AD: autosomal dominant. AR: autosomal recessive. Spo: sporadic. N/A: not available. y: year(s), m: month(s).