Table 1.
Included publications
| Publication | Cases | Country of origin |
|---|---|---|
| Ahmed et al. (2021) | 7 | Pakistan |
| Alkowari et al. (2017) | 2 | Qatar |
| Almontashiri et al. (2018) | 7 | Saudi Arabia |
| Ammar-Khodja et al. (2015) | 7 | Algeria |
| Bai et al. (2019) | 1 | China |
| Bitarafan et al. (2020) | 1 | Iran |
| Safka Brozkova et al. (2020) | 2 | Czech Republic |
| Chiu et al. (2010) | 6 | Taiwan |
| Choi et al. (2009) | 55 | Pakistan |
| Churbanov et al. (2016) | 2 | Russia |
| Dallol et al. (2016) | 2 | Saudi Arabia |
| de Oliveira Costa et al. (2012) | 2 | Brazil |
| Fareed et al. (2021) | 2 | India |
| Fedick et al. (2016) | 4 | USA |
| Gallo-Terán et al. (2004) | 4 | Spain |
| Gallo-Terán et al. (2006) | 1 | Spain |
| Houseman et al. (2001) | 5 | United Arab Emirates |
| Hutchin et al. (2005) | 2 | United Kingdom |
| Iwasa et al. (2013) | 7 | Japan |
| Iwasa et al. (2019) | 39 | Japan |
| Iwasa et al. (2022) | 64 | Japan |
| Jin et al. (2014) | 3 | Korea |
| Kim et al. (2018) | 13 | Korea |
| Lee et al. (2020) | 2 | Korea |
| Li et al. (2021) | 4 | China |
| Likar et al. (2018) | 1 | Slovenia |
| Loundon et al. (2005) | 1 | France |
| Marlin et al. (2010) | 3 | France |
| Matsunaga et al. (2012) | 13 | Japan |
| Naz et al. (2017) | 7 | Pakistan |
| Noman et al. (2019) | 4 | Pakistan |
| Pandey et al. (2017) | 1 | India |
| Qiu et al. (2019) | 2 | China |
| Rodríguez-Ballesteros et al. (2003) | 21 | Spain |
| Rodríguez-Ballesteros et al. (2008) | 36 | Argentina, Colombia, Spain |
| Romanos et al. (2009) | 3 | Brazil |
| Rouillon et al. (2006) | 2 | France |
| Runge et al. (2013) | 2 | USA |
| Santarelli et al. (2009) | 1 | Italy, Spain |
| Santarelli et al. (2011) | 1 | Italy, Spain |
| Santarelli et al. (2015) | 7 | Italy, Spain |
| Santarelli et al. (2021) | 5 | Italy, Spain |
| Shahin et al. (2010) | 3 | Pakistan |
| Souissi et al. (2021) | 1 | Tunisia |
| Tabatabaiefar et al. (2018) | 1 | Iran |
| Tang et al. (2017) | 2 | China |
| Tekin et al. (2005) | 3 | Turkey |
| Varga et al. (2003) | 3 | USA |
| Varga et al. (2006) | 4 | USA |
| Wang et al. (2010) | 1 | China |
| Wang et al. (2018) | 4 | China |
| Wu et al. (2018) | 10 | China |
| Wu et al. (2020) | 1 | China |
| Xia et al. (2018) | 2 | China |
| Xiang et al. (2020) | 1 | China |
| Yildirim-Baylan et al. (2014) | 9 | Turkey |
| Zadro et al. (2010) | 4 | Italy |
| Zhang et al. (2013) | 1 | China |
| Zhang et al. (2016a) | 3 | China |
| Zhang et al. (2016b) | 11 | China |
| Zhu et al. (2021) | 4 | China |
All 61 publications contained patient-specific data on individuals with confirmed pathogenic or likely-pathogenic, biallelic OTOF sequence variations. In total, data were collected on 422 unique individuals from these publications