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Although it is reported that most of the patients with\n                    <jats:italic>OTOF<\/jats:italic>\n                    mutations have stable, congenital or prelingual onset severe-to-profound hearing loss, some patients show atypical clinical phenotypes, and the genotype\u2013phenotype correlation in patients with\n                    <jats:italic>OTOF<\/jats:italic>\n                    mutations is not yet fully understood. In this study, we aimed to reveal detailed clinical characteristics of\n                    <jats:italic>OTOF<\/jats:italic>\n                    -related hearing loss patients and the genotype\u2013phenotype correlation. Detailed clinical information was available for 64 patients in our database who were diagnosed with\n                    <jats:italic>OTOF<\/jats:italic>\n                    -related hearing loss. As reported previously, most of the patients (90.6%) showed a \u201ctypical\u201d phenotype; prelingual and severe-to-profound hearing loss. Forty-seven patients (73.4%) underwent cochlear implantation surgery and showed successful outcomes; approximately 85\u201390% of the patients showed a hearing level of 20\u201339\u00a0dB with cochlear implant and a Categories of Auditory Performance (CAP) scale level 6 or better. Although truncating mutations and p.Arg1939Gln were clearly related to severe phenotype, almost half of the patients with one or more non-truncating mutations showed mild-to-moderate hearing loss. Notably, patients with p.His513Arg, p.Ile1573Thr and p.Glu1910Lys showed \u201ctrue\u201d auditory neuropathy-like clinical characteristics. In this study, we have clarified genotype\u2013phenotype correlation and efficacy of cochlear implantation for\n                    <jats:italic>OTOF<\/jats:italic>\n                    -related hearing loss patients in the biggest cohort studied to date. We believe that the clinical characteristics and genotype\u2013phenotype correlation found in this study will support preoperative counseling and appropriate intervention for\n                    <jats:italic>OTOF<\/jats:italic>\n                    -related hearing loss patients.\n                  <\/jats:p>","DOI":"10.1007\/s00439-021-02351-7","type":"journal-article","created":{"date-parts":[[2021,9,18]],"date-time":"2021-09-18T07:03:51Z","timestamp":1631948631000},"page":"865-875","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Detailed clinical features and genotype\u2013phenotype correlation in an OTOF-related hearing loss cohort in 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