Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan

• DOI: 10.1007/s00439-021-02351-7
• Publication Date: 2021-09-18T11:03:51Z
• Authors: Yoh-ichiro Iwasa; Shin-ya Nishio; Hidekane Yoshimura; Akiko Sugaya; Yuko Kataoka; Yukihide Maeda; Yukihiko Kanda; Kyoko Nagai; Yasushi Naito; Hiroshi Yamazaki; Tetsuo Ikezono; Han Matsuda; Masako Nakai; Risa Tona; Yuika Sakurai; Remi Motegi; Hidehiko Takeda; Marina Kobayashi; Chiharu Kihara; Takashi Ishino; Shin-ya Morita; Satoshi Iwasaki; Masahiro Takahashi; Sakiko Furutate; Shin-ichiro Oka; Toshinori Kubota; Yasuhiro Arai; Yumiko Kobayashi; Daisuke Kikuchi; Tomoko Shintani; Noriko Ogasawara; Yohei Honkura; Shuji Izumi; Misako Hyogo; Yuzuru Ninoyu; Mayumi Suematsu; Jun Nakayama; Nana Tsuchihashi; Mayuri Okami; Hideaki Sakata; Hiroshi Yoshihashi; Taisuke Kobayashi; Kozo Kumakawa; Tadao Yoshida; Tomoko Esaki; Shin-ichi Usami
• Keywords: Auditory neuropathy; Genotype-phenotype distinction

Mutations in the OTOF gene are a common cause of hereditary hearing loss and main auditory neuropathy spectrum disorder (ANSD). Although it is reported that most patients with mutations have stable, congenital or prelingual onset severe-to-profound loss, some show atypical clinical phenotypes, genotype-phenotype correlation not yet fully understood. In this study, we aimed to reveal detailed characteristics OTOF-related correlation. Detailed information was available for 64 our database who were diagnosed loss. As previously, (90.6%) showed "typical" phenotype; Forty-seven (73.4%) underwent cochlear implantation surgery successful outcomes; approximately 85-90% level 20-39 dB implant Categories Auditory Performance (CAP) scale 6 better. truncating p.Arg1939Gln clearly related severe phenotype, almost half one more non-truncating mild-to-moderate Notably, p.His513Arg, p.Ile1573Thr p.Glu1910Lys "true" neuropathy-like characteristics. clarified efficacy biggest cohort studied date. We believe found study will support preoperative counseling appropriate intervention patients.