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2024
article
The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B
Kizuki Watanabe, Shin‐ya Nishio, Shin‐ichi Usami, Takumi Kumai, Akihiro Katada, Noriko Ogasawara, Tomoko Shintani, Shinya Morita, Norito Takeichi, Shinichi Goto, Atsushi Nanba, Akira Sasaki, Yumiko Kobayashi, Yohei Honkura, Mika Adachi, Shunsuke Takai, Kiyoshi Oda, Teruyuki Sato, Takechiyo Yamada, Kazuhiro Shiina, Tsukasa Ito, Chikako Shinkawa, Akiko Amano, Daisuke Kikuchi, Hiroshi Ogawa, Tetsuro Wada, Yuki Hirose, Emiko Noguchi, Nobuko Moriyama, Kouji Ohtsuka, Kentaro Shirai, Rei Sadayasu, Mari Shimada, Hiroshi Suzumura, Tetsuya Tono, Masaomi Motegi, Ikko Mitoh, Hiroe Tada, Kyoko Nagai, Hideaki Sakata, Kotaro Ishikawa, Naohiro Yoshida, Kunio Mizutari, Yoichi Suzuki, Testuo Ikezono, Han Matsuda, Yoshihiro Noguchi, Hidehiko Takeda, Marina Kobayashi, Yuika Sakurai, Genki Hirabayashi, Shouri Tajima, Nobuhiro Nishiyama, Kyoko Shirai, Sachie Kawaguchi, Satoshi Iwasaki, Masahiro Takahashi, Sakiko Furutate, Shinichiro Oka, Hiroshi Yoshihashi, Hiroshi Futagawa, Naoki Ohishi, Makoto Hosoya, Yoshiyuki Kawashima, Taku Ito, Ayako Maruyama, Kozo Kumakawa, Takeshi Matsunobu, Naoko Sakuma, Katsutoshi Takahashi, Akinori Kashio, Hiroko Monobe, Yuji Miyoshi, Kumiko Yabuki, Yukiko Seto, Hajime Sano, Naomi Araki, Yasuhiro Arai, Mayuri Okami, Koichiro Wasano, Hiromitsu Hatakeyama, Yasuhiro Isono, Shinya Ohira, Manabu Komori, Shuji Izumi, Michiro Fujisaka, Atsushi Watanabe, Masayuki Okamoto, Yumi Ito, Mari Takahashi, Maiko Miyagawa, Yutaka Takumi, Hidekane Yoshimura, Jun Shinagawa, Hideaki Moteki, Koji Tsukamoto, Aya Ichinose, Natsuko Obara, Bunya Kuza, Natsuki Takada, Michinori Funato, Hiroshi Nakanishi, Shin–ichi Sano, Noriko Sano, Hiromi Koizumi, Tomoko Esaki, Tadao Yoshida, Satofumi Sugimoto, Takayuki Okano, Kazuhiko Takeuchi, Hiroshi Sakaida, Jun Nakayama, Masako Nakai, Risa Tona, Hiroshi Yamazaki, Mirei Taniguchi, Misako Hyogo, Takashi Nakamura, Mayumi Suematsu, Hiroaki Sato, Rie Horie, Hiroshi Hidaka, Akitoshi Mitani, Shin‐Ichi Haginomori, Akiko Ozaki, Yumi Ohta, Takaaki Minamidani, Shin‐ichiro Kitajiri, Rie Kanai, Yasuyuki Hiratsuka, Naoki Yoshida, Chiho Okada, Natsumi Uehara, Yasushi Naito, Norio Yamamoto, Chihiro Morimoto, Mariko Kakudo, Muneki Hotomu, Masamitsu Kono, Yoshihiro Maegaki, Hiroyuki Awano, Tetsuya Okazaki, T. Sakamoto, Yuko Kataoka, Yukihide Maeda, Akiko Sugaya, Shin Masuda, Yukio Takeno, Takeshi Ishino, Kentaro Egusa, Yuji Yamashita, Kazuma Sugahara, Eiji Kondo, Naohito Hato, Masato Teraoka, Taisuke Kobayashi, Takashi Nakagawa, Nozomu Matumoto, Nana Tsuchihashi, Chie Oshikawa, Keiichiro Tsumadori, Kazuko Murakami, Ryota Mihashi, Eriko Shimazaki, Chiharu Kihara, Yukihiko Kanda, Kidzu YuUmi, Nanae Kawano, Kuniyuki Takahashi, Takeshi Nakamura, Toshiko Yuji, Ikuyo Miyanohara, Mikio Suzuki, Shunsuke Kondo
23Citations signalées — pas une note de qualité
101Institutions déclarées
2Pays d’affiliation déclarés
Résumé fourni par la source
The 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.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B
- Date Crossref
- 09/04/2024
- Éditeur
- Springer Science and Business Media LLC
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude et ne compte pas comme une seconde source scientifique indépendante.
Institutions déclarées
Une affiliation ne permet pas de déduire la nationalité d’un auteur.
Sujets associés
Hearing, Cochlea, Tinnitus, GeneticsCongenital heart defects researchEar Surgery and Otitis Media