{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T07:05:24Z","timestamp":1793171124239,"version":"4.5.0"},"reference-count":37,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2019,9,24]],"date-time":"2019-09-24T00:00:00Z","timestamp":1569283200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","award":["H29-Nanchitou(Nan)-Ippan-031"],"award-info":[{"award-number":["H29-Nanchitou(Nan)-Ippan-031"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["16kk0205010h001, 18ek0109363h0001"],"award-info":[{"award-number":["16kk0205010h001, 18ek0109363h0001"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology","doi-asserted-by":"publisher","award":["15H02565"],"award-info":[{"award-number":["15H02565"]}],"id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>TECTA is well known as a causative gene for autosomal dominant mid-frequency hearing loss observed in various populations. In this study, we performed next-generation sequencing analysis of a large Japanese hearing loss cohort, including eight hundred and twelve (812) subjects from unrelated autosomal dominant hearing loss families, to estimate the prevalence and phenotype-genotype correlations in patients with TECTA mutations. The prevalence of TECTA mutations in Japanese autosomal dominant sensorineural hearing loss families was found to be 3.2%. With regard to the type of hearing loss, the patients with mutations in the nidogen-like domain or ZA domain of TECTA showed varied audiograms. However, most of the patients with mutations in the ZP domain showed mid-frequency hearing loss. The rate of hearing deterioration in TECTA-associated hearing loss patients and in the normal hearing Japanese control population were the same and regression lines for each group were parallel. We carried out haplotype analysis for four families which had one recurring missense variant, c.5597C&gt;T (p.Thr1866Met). Our results revealed four different haplotypes, suggesting that this mutation occurred independently in each family. In conclusion, TECTA variants represent the second largest cause of autosomal dominant sensorineural hearing loss in Japan. The hearing loss progression observed in the patients with TECTA mutations might reflect presbycusis. The c.5597C&gt;T mutation occurred in a mutational hot spot and is observed in many ethnic populations.<\/jats:p>","DOI":"10.3390\/genes10100744","type":"journal-article","created":{"date-parts":[[2019,9,25]],"date-time":"2019-09-25T03:51:18Z","timestamp":1569383478000},"page":"744","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":41,"title":["The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss"],"prefix":"10.3390","volume":"10","author":[{"given":"Rika","family":"Yasukawa","sequence":"first","affiliation":[{"name":"Department of Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideaki","family":"Moteki","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, 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 Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan"},{"name":"Department of Hearing Implant Sciences, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kotaro","family":"Ishikawa","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, National Rehabilitation Center for Persons with Disabilities, 4-1 Namiki, Tokorozawa 359-8555, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoko","family":"Abe","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Toranomon Hospital, 2-2-2 Toranomon, Tokyo 105-0001, 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, 1-1 Seiryomachi, Sendai 980-0872, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Misako","family":"Hyogo","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, Kyoto Prefectural University of Medicine, 465 Kagii-cho, Kyoto 602-8566, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryota","family":"Mihashi","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, Kurume University School of Medicine, 67 Asahi-machi, Kurume 830-0011, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuo","family":"Ikezono","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Saitama Medical University, 38 Morohongo, Moroyama 350-0451, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoko","family":"Shintani","sequence":"additional","affiliation":[{"name":"Department of Microbiology, Sapporo Medical University School of Medicine, South-1, West-17, Sapporo 060-8556, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriko","family":"Ogasawara","sequence":"additional","affiliation":[{"name":"Department of Microbiology, Sapporo Medical University School of Medicine, South-1, West-17, Sapporo 060-8556, Japan"},{"name":"Department of Otorhinolaryngology, Sapporo Medical University School of Medicine, South-1, West-17, Sapporo 060-556, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyoko","family":"Shirai","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology-Head and Neck Surgery, Tokyo Medical University, 6-7-1 Nishi-shinjuku, Tokyo 160-0023, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Yoshihashi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Tokyo Metropolitan Children\u2019s Medical Center, 2-8-29 Musashidai, Tokyo 183-8561, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Ishino","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Head and Neck Surgery, Hiroshima University Hospital, 1-2-3 Kasumi, Hiroshima 734-0037, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koshi","family":"Otsuki","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Fukushima Medical University, 1 Hikarigaoka, Fukushima 960-1295, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4237-3564","authenticated-orcid":false,"given":"Tsukasa","family":"Ito","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Head and Neck Surgery, Yamagata University Faculty of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuma","family":"Sugahara","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Yamaguchi University Graduate School of Medicine, 1-1-1 Minamikogushi, Ube City 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 Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan"},{"name":"Department of Hearing Implant Sciences, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2019,9,24]]},"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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