{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T21:23:38Z","timestamp":1788384218223,"version":"build-2803163510"},"reference-count":48,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2024,4,12]],"date-time":"2024-04-12T00:00:00Z","timestamp":1712880000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ministry of Health, Labor and Welfare of Japan","award":["H29-Nanchitou(Nan)-Ippan-031"],"award-info":[{"award-number":["H29-Nanchitou(Nan)-Ippan-031"]}]},{"name":"Ministry of Health, Labor and Welfare of Japan","award":["20FC1048"],"award-info":[{"award-number":["20FC1048"]}]},{"name":"Ministry of Health, Labor and Welfare of Japan","award":["16kk0205010h0001"],"award-info":[{"award-number":["16kk0205010h0001"]}]},{"name":"Ministry of Health, Labor and Welfare of Japan","award":["17kk0205010h0002"],"award-info":[{"award-number":["17kk0205010h0002"]}]},{"name":"Ministry of Health, Labor and Welfare of Japan","award":["18kk0205010h0003"],"award-info":[{"award-number":["18kk0205010h0003"]}]},{"name":"Ministry of Health, Labor and Welfare of Japan","award":["16ek0109114h0002"],"award-info":[{"award-number":["16ek0109114h0002"]}]},{"name":"Ministry of Health, Labor and Welfare of Japan","award":["17ek0109114h0003"],"award-info":[{"award-number":["17ek0109114h0003"]}]},{"name":"Ministry of Health, Labor and Welfare of Japan","award":["18ek0109363h0001"],"award-info":[{"award-number":["18ek0109363h0001"]}]},{"name":"Ministry of Health, Labor and Welfare of Japan","award":["19ek0109363h0002"],"award-info":[{"award-number":["19ek0109363h0002"]}]},{"name":"Ministry of Health, Labor and Welfare of Japan","award":["20ek0109363h0003"],"award-info":[{"award-number":["20ek0109363h0003"]}]},{"name":"Japan Agency for Medical Research and Development (AMED)","award":["H29-Nanchitou(Nan)-Ippan-031"],"award-info":[{"award-number":["H29-Nanchitou(Nan)-Ippan-031"]}]},{"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":["16kk0205010h0001"],"award-info":[{"award-number":["16kk0205010h0001"]}]},{"name":"Japan Agency for Medical Research and Development (AMED)","award":["17kk0205010h0002"],"award-info":[{"award-number":["17kk0205010h0002"]}]},{"name":"Japan Agency for Medical Research and Development (AMED)","award":["18kk0205010h0003"],"award-info":[{"award-number":["18kk0205010h0003"]}]},{"name":"Japan Agency for Medical Research and Development (AMED)","award":["16ek0109114h0002"],"award-info":[{"award-number":["16ek0109114h0002"]}]},{"name":"Japan Agency for Medical Research and Development (AMED)","award":["17ek0109114h0003"],"award-info":[{"award-number":["17ek0109114h0003"]}]},{"name":"Japan Agency for Medical Research and Development (AMED)","award":["18ek0109363h0001"],"award-info":[{"award-number":["18ek0109363h0001"]}]},{"name":"Japan Agency for Medical Research and Development (AMED)","award":["19ek0109363h0002"],"award-info":[{"award-number":["19ek0109363h0002"]}]},{"name":"Japan Agency for Medical Research and Development (AMED)","award":["20ek0109363h0003"],"award-info":[{"award-number":["20ek0109363h0003"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>The PTPRQ gene has been identified as one of the genes responsible for non-syndromic sensorineural hearing loss (SNHL), and assigned as DFNA73 and DFNB84. To date, about 30 causative PTPRQ variants have been reported to cause SNHL. However, the detailed clinical features of PTPRQ-associated hearing loss (HL) remain unclear. In this study, 15,684 patients with SNHL were enrolled and genetic analysis was performed using massively parallel DNA sequencing (MPS) for 63 target deafness genes. We identified 17 possibly disease-causing PTPRQ variants in 13 Japanese patients, with 15 of the 17 variants regarded as novel. The majority of variants identified in this study were loss of function. Patients with PTPRQ-associated HL mostly showed congenital or childhood onset. Their hearing levels at high frequency deteriorated earlier than that at low frequency. The severity of HL progressed from moderate to severe or profound HL. Five patients with profound or severe HL received cochlear implantation, and the postoperative sound field threshold levels and discrimination scores were favorable. These findings will contribute to a greater understanding of the clinical features of PTPRQ-associated HL and may be relevant in clinical practice.<\/jats:p>","DOI":"10.3390\/genes15040489","type":"journal-article","created":{"date-parts":[[2024,4,12]],"date-time":"2024-04-12T09:28:06Z","timestamp":1712914086000},"page":"489","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Detailed Clinical Features of PTPRQ-Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort"],"prefix":"10.3390","volume":"15","author":[{"given":"Naoko","family":"Sakuma","sequence":"first","affiliation":[{"name":"Department of Otorhinolaryngology, Head and Neck Surgery, Nippon Medical School, Tokyo 113-8603, 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, 3-1-1, Asahi, Matsumoto City 390-8621, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shin-ichi","family":"Goto","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Hirosaki University Graduate School of Medicine, Hirosaki 036-8560, 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"}]},{"given":"Kiyoshi","family":"Oda","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Tohoku Rosai Hospital, Sendai 981-8563, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidehiko","family":"Takeda","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Toranomon Hospital, Tokyo 105-8470, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Kobayashi","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Toranomon Hospital, Tokyo 105-8470, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kozo","family":"Kumakawa","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Kamio Memorial Hospital, Tokyo 101-0063, Japan"},{"name":"Akasaka Toranomon Clinic, Tokyo 107-0052, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Iwasaki","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, International University of Health and Welfare, Mita Hospital, Tokyo 108-8329, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masahiro","family":"Takahashi","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\/0000-0002-8368-9573","authenticated-orcid":false,"given":"Taku","family":"Ito","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Tokyo Medical and Dental University, Tokyo 113-8510, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuhiro","family":"Arai","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology-Head and Neck Surgery, Yokohama City University School of Medicine, Yokohama 236-0004, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuhiro","family":"Isono","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Yokohama City University Medical Center, Yokohama 232-0024, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natsuko","family":"Obara","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Gifu University Graduate School of Medicine, Gifu City 501-1194, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Matsunobu","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Head and Neck Surgery, Nippon Medical School, Tokyo 113-8603, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimihiro","family":"Okubo","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Head and Neck Surgery, Nippon Medical School, Tokyo 113-8603, 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, 3-1-1, Asahi, Matsumoto City 390-8621, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,4,12]]},"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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