The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B
Authors: Watanabe Kizuki , Nishio Shin-ya , Usami Shin-ichi ,   the Deafness Gene Study Consortium, Kumai Takumi , Katada Akihiro , Ogasawara Noriko , Shintani Tomoko , Morita Shin-ya , Takeichi Norito , Goto Shin-ichi , Nanba Atsushi , Sasaki Akira , Kobayashi Yumiko , Honkura Yohei , Adachi Mika , Takai Shunsuke , Oda Kiyoshi , Sato Teruyuki , Yamada Takechiyo , Shiina Kazuhiro , Ito Tsukasa , Shinkawa Chikako , Amano Akiko , Kikuchi Daisuke , Ogawa Hiroshi , Wada Tetsuro , Hirose Yuki , Noguchi Emiko , Moriyama Nobuko , Ohtsuka Kouji , Shirai Kentaro , Sadayasu Rei , Shimada Mari , Suzumura Hiroshi , Tono Tetsuya , Motegi Masaomi , Mitoh Ikko , Tada Hiroe , Nagai Kyoko , Sakata Hideaki , Ishikawa Kotaro , Yoshida Naohiro , Mizutari Kunio , Suzuki Yoichi , Ikezono Testuo , Matsuda Han , Noguchi Yoshihiro , Takeda Hidehiko , Kobayashi Marina , Sakurai Yuika , Hirabayashi Genki , Tajima Shouri , Nishiyama Nobuhiro , Shirai Kyoko , Kawaguchi Sachie , Iwasaki Satoshi , Takahashi Masahiro , Furutate Sakiko , Oka Shin-ichiro , Yoshihashi Hiroshi , Futagawa Hiroshi , Ohishi Naoki , Hosoya Makoto , Kawashima Yoshiyuki , Ito Taku , Maruyama Ayako , Kumakawa Kozo , Matsunobu Takeshi , Sakuma Naoko , Takahashi Katsutoshi , Kashio Akinori , Monobe Hiroko , Miyoshi Yuji , Yabuki Kumiko , Seto Yukiko , Sano Hajime , Araki Naomi , Arai Yasuhiro , Okami Mayuri , Wasano Koichiro , Hatakeyama Hiromitsu , Isono Yasuhiro , Ohira Shinya , Komori Manabu , Izumi Shuji , Fujisaka Michiro , Watanabe Atsushi , Okamoto Masayuki , Ito Yumi , Takahashi Mari , Miyagawa Maiko , Takumi Yutaka , Yoshimura Hidekane , Shinagawa Jun , Moteki Hideaki , Tsukamoto Koji , Ichinose Aya , Obara Natsuko , Kuza Bunya , Takada Natsuki , Funato Michinori , Nakanishi Hiroshi , Sano Shin-ichi , Sano Noriko , Koizumi Hiromi , Esaki Tomoko , Yoshida Tadao , Sugimoto Satofumi , Okano Takayuki , Takeuchi Kazuhiko , Sakaida Hiroshi , Nakayama Jun , Nakai Masako , Tona Risa , Yamazaki Hiroshi , Taniguchi Mirei , Hyogo Misako , Nakamura Takashi , Suematsu Mayumi , Sato Hiroaki , Horie Rie , Hidaka Hiroshi , Mitani Akitoshi , Haginomori Shin-ichi , Ozaki Akiko , Ohta Yumi , Minamidani Takaaki , Kitajiri Shin-ichiro , Kanai Rie , Hiratsuka Yasuyuki , Yoshida Naoki , Okada Chiho , Uehara Natsumi , Naito Yasushi , Yamamoto Norio , Morimoto Chihiro , Kakudo Mariko , Hotomu Muneki , Kono Masamitsu , Maegaki Yoshihiro , Awano Hiroyuki , Okazaki Tetsuya , Sakamoto Tatsunori , Kataoka Yuko , Maeda Yukihide , Sugaya Akiko , Masuda Shin , Takeno Yukio , Ishino Takeshi , Egusa Kentaro , Yamashita Yuji , Sugahara Kazuma , Kondo Eiji , Hato Naohito , Teraoka Masato , Kobayashi Taisuke , Nakagawa Takashi , Matumoto Nozomu , Tsuchihashi Nana , Oshikawa Chie , Tsumadori Keiichiro , Murakami Kazuko , Mihashi Ryota , Shimazaki Eriko , Kihara Chiharu , Kanda Yukihiko , YuUmi Kidzu , Kawano Nanae , Takahashi Kuniyuki , Nakamura Takeshi , Yuji Toshiko , Miyanohara Ikuyo , Suzuki Mikio , Kondo Shunsuke 
Published: April 2024

AbstractThe MYO7A gene is known to be responsible for both syndromic hearing loss (Usher syndrome type1B:USH1B) and non-syndromic hearing loss including autosomal dominant and autosomal recessive inheritance (DFNA11, DFNB2). However, the prevalence and detailed clinical features of MYO7A-associated hearing loss across a large population remain unclear. In this study, we conducted next-generation sequencing analysis for a large cohort of 10,042 Japanese hearing loss patients. As a result, 137 patients were identified with MYO7A-associated hearing loss so that the prevalence among Japanese hearing loss patients was 1.36%. We identified 70 disease-causing candidate variants in this study, with 36 of them being novel variants. All variants identified in autosomal dominant cases were missense or in-frame deletion variants. Among the autosomal recessive cases, all patients had at least one missense variant. On the other hand, in patients with Usher syndrome, almost half of the patients carried biallelic null variants (nonsense, splicing, and frameshift variants). Most of the autosomal dominant cases showed late-onset progressive hearing loss. On the other hand, cases with autosomal recessive inheritance or Usher syndrome showed congenital or early-onset hearing loss. The visual symptoms in the Usher syndrome cases developed between age 5–15, and the condition was diagnosed at about 6–15 years of age.