{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T07:56:01Z","timestamp":1787730961539,"version":"build-2784847793"},"reference-count":25,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2025,1,7]],"date-time":"2025-01-07T00:00:00Z","timestamp":1736208000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Health and Labor Sciences Research Grant for Research on Rare and Intractable Diseases and Comprehensive Research on Disability Health and Welfare from the Ministry of Health, Labor and Welfare of Japan","award":["20FC1048"],"award-info":[{"award-number":["20FC1048"]}]},{"name":"Health and Labor Sciences Research Grant for Research on Rare and Intractable Diseases and Comprehensive Research on Disability Health and Welfare from the Ministry of Health, Labor and Welfare of Japan","award":["23FC0201"],"award-info":[{"award-number":["23FC0201"]}]},{"name":"Health and Labor Sciences Research Grant for Research on Rare and Intractable Diseases and Comprehensive Research on Disability Health and Welfare from the Ministry of Health, Labor and Welfare of Japan","award":["JP16kk0205010"],"award-info":[{"award-number":["JP16kk0205010"]}]},{"name":"Health and Labor Sciences Research Grant for Research on Rare and Intractable Diseases and Comprehensive Research on Disability Health and Welfare from the Ministry of Health, Labor and Welfare of Japan","award":["JP18ek0109363"],"award-info":[{"award-number":["JP18ek0109363"]}]},{"name":"Health and Labor Sciences Research Grant for Research on Rare and Intractable Diseases and Comprehensive Research on Disability Health and Welfare from the Ministry of Health, Labor and Welfare of Japan","award":["JP21ek0109542"],"award-info":[{"award-number":["JP21ek0109542"]}]},{"name":"Health and Labor Sciences Research Grant for Research on Rare and Intractable Diseases and Comprehensive Research on Disability Health and Welfare from the Ministry of Health, Labor and Welfare of Japan","award":["JP24ek0109741"],"award-info":[{"award-number":["JP24ek0109741"]}]},{"name":"Japan Agency for Medical Research and Development (AMED)","award":["20FC1048"],"award-info":[{"award-number":["20FC1048"]}]},{"name":"Japan Agency for Medical Research and Development (AMED)","award":["23FC0201"],"award-info":[{"award-number":["23FC0201"]}]},{"name":"Japan Agency for Medical Research and Development (AMED)","award":["JP16kk0205010"],"award-info":[{"award-number":["JP16kk0205010"]}]},{"name":"Japan Agency for Medical Research and Development (AMED)","award":["JP18ek0109363"],"award-info":[{"award-number":["JP18ek0109363"]}]},{"name":"Japan Agency for Medical Research and Development (AMED)","award":["JP21ek0109542"],"award-info":[{"award-number":["JP21ek0109542"]}]},{"name":"Japan Agency for Medical Research and Development (AMED)","award":["JP24ek0109741"],"award-info":[{"award-number":["JP24ek0109741"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background\/Objectives: The OTOG gene is responsible for autosomal recessive non-syndromic sensorineural hearing loss and is assigned as DFNB18B. To date, 44 causative OTOG variants have been reported to cause non-syndromic hearing loss. However, the detailed clinical features for OTOG-associated hearing loss remain unclear. Methods: In this study, we analyzed 7065 patients with non-syndromic hearing loss (mean age 26.4 \u00b1 22.9 years, 2988 male, 3855 female, and 222 without gender information) using massively parallel DNA sequencing for 158 target deafness genes. We identified the patients with biallelic OTOG variants and summarized the clinical characteristics. Results: Among the 7065 patients, we identified 14 possibly disease-causing OTOG variants in 26 probands, with 13 of the 14 variants regarded as novel. Patients with OTOG-associated hearing loss mostly showed congenital or childhood-onset hearing loss. They were considered to show non-progressive, mild-to-moderate hearing loss. There were no symptoms that accompanied the hearing loss in OTOG-associated hearing loss patients. Conclusions: We confirmed non-progressive, mild-to-moderate hearing loss as the clinical characteristics of OTOG-associated hearing loss. These findings will contribute to a better understanding of the clinical features of OTOG-associated HL and will be useful in clinical practice.<\/jats:p>","DOI":"10.3390\/genes16010060","type":"journal-article","created":{"date-parts":[[2025,1,7]],"date-time":"2025-01-07T05:06:34Z","timestamp":1736226394000},"page":"60","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Novel OTOG Variants and Clinical Features of Hearing Loss in a Large Japanese Cohort"],"prefix":"10.3390","volume":"16","author":[{"given":"Yasuhiro","family":"Arai","sequence":"first","affiliation":[{"name":"Department of Otorhinolaryngology-Head and Neck Surgery, Yokohama City University School of Medicine, Yokohama 236-0004, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6640-2297","authenticated-orcid":false,"given":"Shin-ya","family":"Nishio","sequence":"additional","affiliation":[{"name":"Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto 390-8621, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinichi","family":"Goto","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology Head and Neck Surgery, Hirosaki University School of Medicine, Hirosaki 036-8562, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yumiko","family":"Kobayashi","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology and Head and Neck Surgery, Iwate Medical University, Morioka 028-3694, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yohei","family":"Honkura","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, Tohoku University School of Medicine, Sendai 980-8575, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2800-8886","authenticated-orcid":false,"given":"Akira","family":"Ganaha","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, International University of Health and Welfare, Narita Hospital, Narita 286-0124, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kotaro","family":"Ishikawa","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, National Rehabilitation Center for Persons with Disabilities, Tokorozawa 359-8555, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shin-ichiro","family":"Oka","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, International University of Health and Welfare, Mita Hospital, Tokyo 108-8329, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8939-4648","authenticated-orcid":false,"given":"Hiroshi","family":"Futagawa","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Tokyo Metropolitan Children\u2019s Medical Center, Tokyo 183-8561, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mayuri","family":"Okami","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Tokai University School of Medicine, Isehara 259-1193, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4038-4275","authenticated-orcid":false,"given":"Fumio","family":"Takada","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Genomics, Kitasato University Graduate School of Medical Sciences, Sagamihara 252-0373, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyoko","family":"Nagai","sequence":"additional","affiliation":[{"name":"TAKASAKI Ear Nose and Throat Clinic, Takasaki 370-0031, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoko","family":"Esaki","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Aichi Children\u2019s Health and Medical Center, Obu 474-8710, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takayuki","family":"Okano","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Fujita Health University Bantane Hospital, Nagoya 454-8509, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yumi","family":"Ohta","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology-Head and Neck Surgery, Osaka University Graduate School of Medicine, Suita 565-0871, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shin","family":"Masuda","sequence":"additional","affiliation":[{"name":"Department of Pediatric Rehabilitation, Hiroshima Prefectural Hospital, Hiroshima 734-8530, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kentaro","family":"Egusa","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Hiroshima City Hiroshima Citizens Hospital, Hiroshima 730-8518, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masato","family":"Teraoka","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Head and Neck Surgery, Ehime University Graduate School of Medicine, Toon 791-0295, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0612-8323","authenticated-orcid":false,"given":"Kazuma","family":"Sugahara","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Yamaguchi University Graduate School of Medicine, Ube 755-8505, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5068-6122","authenticated-orcid":false,"given":"Shin-ichi","family":"Usami","sequence":"additional","affiliation":[{"name":"Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto 390-8621, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,1,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2151","DOI":"10.1056\/NEJMra050700","article-title":"Newborn hearing screening\u2014A silent revolution","volume":"354","author":"Morton","year":"2006","journal-title":"N. 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