Article
Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.
Human genetics - 1 Apr 2022
Iwasa Yoh-Ichiro, Nishio Shin-Ya, Yoshimura Hidekane, Sugaya Akiko, Kataoka Yuko, Maeda Yukihide, Kanda Yukihiko, Nagai Kyoko, Naito Yasushi, Yamazaki Hiroshi, Ikezono Tetsuo, Matsuda Han, Nakai Masako, Tona Risa, Sakurai Yuika, Motegi Remi, Takeda Hidehiko, Kobayashi Marina, Kihara Chiharu, Ishino Takashi, Morita Shin-Ya, Iwasaki Satoshi, Takahashi Masahiro, Furutate Sakiko, Oka Shin-Ichiro, Kubota Toshinori, Arai Yasuhiro, Kobayashi Yumiko, Kikuchi Daisuke, Shintani Tomoko, Ogasawara Noriko, Honkura Yohei, Izumi Shuji, Hyogo Misako, Ninoyu Yuzuru, Suematsu Mayumi, Nakayama Jun, Tsuchihashi Nana, Okami Mayuri, Sakata Hideaki, Yoshihashi Hiroshi, Kobayashi Taisuke, Kumakawa Kozo, Yoshida Tadao, Esaki Tomoko, Usami Shin-Ichi
Abstract excerpt
Mutations in the OTOF gene are a common cause of hereditary hearing loss and the main cause of auditory neuropathy spectrum disorder (ANSD). Although it is reported that most of the patients with OTOF mutations have stable, congenital or prelingual onset severe-to-profound hearing loss, some patients show atypical clinical phenotypes, and the genotype-phenotype correlation in patients with OTOF mutations is not...
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