The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B
© 2024. The Author(s)..
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.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2024 |
|---|---|
| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:14 |
|---|---|
| Enthalten in: |
Scientific reports - 14(2024), 1 vom: 09. Apr., Seite 8326 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Watanabe, Kizuki [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
|---|
| Anmerkungen: |
Date Completed 11.04.2024 Date Revised 25.04.2024 published: Electronic Citation Status MEDLINE |
|---|
| doi: |
10.1038/s41598-024-57415-1 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM370836383 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM370836383 | ||
| 003 | DE-627 | ||
| 005 | 20240425233649.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 240410s2024 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1038/s41598-024-57415-1 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1386.xml |
| 035 | |a (DE-627)NLM370836383 | ||
| 035 | |a (NLM)38594301 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Watanabe, Kizuki |e verfasserin |4 aut | |
| 245 | 1 | 4 | |a The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B |
| 264 | 1 | |c 2024 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 11.04.2024 | ||
| 500 | |a Date Revised 25.04.2024 | ||
| 500 | |a published: Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2024. The Author(s). | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Journal Article | |
| 650 | 7 | |a Myosins |2 NLM | |
| 650 | 7 | |a EC 3.6.4.1 |2 NLM | |
| 650 | 7 | |a Myosin VIIa |2 NLM | |
| 700 | 1 | |a Nishio, Shin-Ya |e verfasserin |4 aut | |
| 700 | 1 | |a Usami, Shin-Ichi |e verfasserin |4 aut | |
| 700 | 0 | |a Deafness Gene Study Consortium |e verfasserin |4 aut | |
| 700 | 1 | |a Kumai, Takumi |e investigator |4 oth | |
| 700 | 1 | |a Katada, Akihiro |e investigator |4 oth | |
| 700 | 1 | |a Ogasawara, Noriko |e investigator |4 oth | |
| 700 | 1 | |a Shintani, Tomoko |e investigator |4 oth | |
| 700 | 1 | |a Morita, Shin-Ya |e investigator |4 oth | |
| 700 | 1 | |a Takeichi, Norito |e investigator |4 oth | |
| 700 | 1 | |a Goto, Shin-Ichi |e investigator |4 oth | |
| 700 | 1 | |a Nanba, Atsushi |e investigator |4 oth | |
| 700 | 1 | |a Sasaki, Akira |e investigator |4 oth | |
| 700 | 1 | |a Kobayashi, Yumiko |e investigator |4 oth | |
| 700 | 1 | |a Honkura, Yohei |e investigator |4 oth | |
| 700 | 1 | |a Adachi, Mika |e investigator |4 oth | |
| 700 | 1 | |a Takai, Shunsuke |e investigator |4 oth | |
| 700 | 1 | |a Oda, Kiyoshi |e investigator |4 oth | |
| 700 | 1 | |a Sato, Teruyuki |e investigator |4 oth | |
| 700 | 1 | |a Yamada, Takechiyo |e investigator |4 oth | |
| 700 | 1 | |a Shiina, Kazuhiro |e investigator |4 oth | |
| 700 | 1 | |a Ito, Tsukasa |e investigator |4 oth | |
| 700 | 1 | |a Shinkawa, Chikako |e investigator |4 oth | |
| 700 | 1 | |a Amano, Akiko |e investigator |4 oth | |
| 700 | 1 | |a Kikuchi, Daisuke |e investigator |4 oth | |
| 700 | 1 | |a Ogawa, Hiroshi |e investigator |4 oth | |
| 700 | 1 | |a Wada, Tetsuro |e investigator |4 oth | |
| 700 | 1 | |a Hirose, Yuki |e investigator |4 oth | |
| 700 | 1 | |a Noguchi, Emiko |e investigator |4 oth | |
| 700 | 1 | |a Moriyama, Nobuko |e investigator |4 oth | |
| 700 | 1 | |a Ohtsuka, Kouji |e investigator |4 oth | |
| 700 | 1 | |a Shirai, Kentaro |e investigator |4 oth | |
| 700 | 1 | |a Sadayasu, Rei |e investigator |4 oth | |
| 700 | 1 | |a Shimada, Mari |e investigator |4 oth | |
| 700 | 1 | |a Suzumura, Hiroshi |e investigator |4 oth | |
| 700 | 1 | |a Tono, Tetsuya |e investigator |4 oth | |
| 700 | 1 | |a Motegi, Masaomi |e investigator |4 oth | |
| 700 | 1 | |a Mitoh, Ikko |e investigator |4 oth | |
| 700 | 1 | |a Tada, Hiroe |e investigator |4 oth | |
| 700 | 1 | |a Nagai, Kyoko |e investigator |4 oth | |
| 700 | 1 | |a Sakata, Hideaki |e investigator |4 oth | |
| 700 | 1 | |a Ishikawa, Kotaro |e investigator |4 oth | |
| 700 | 1 | |a Yoshida, Naohiro |e investigator |4 oth | |
| 700 | 1 | |a Mizutari, Kunio |e investigator |4 oth | |
| 700 | 1 | |a Suzuki, Yoichi |e investigator |4 oth | |
| 700 | 1 | |a Ikezono, Testuo |e investigator |4 oth | |
| 700 | 1 | |a Matsuda, Han |e investigator |4 oth | |
| 700 | 1 | |a Noguchi, Yoshihiro |e investigator |4 oth | |
| 700 | 1 | |a Takeda, Hidehiko |e investigator |4 oth | |
| 700 | 1 | |a Kobayashi, Marina |e investigator |4 oth | |
| 700 | 1 | |a Sakurai, Yuika |e investigator |4 oth | |
| 700 | 1 | |a Hirabayashi, Genki |e investigator |4 oth | |
| 700 | 1 | |a Tajima, Shouri |e investigator |4 oth | |
| 700 | 1 | |a Nishiyama, Nobuhiro |e investigator |4 oth | |
| 700 | 1 | |a Shirai, Kyoko |e investigator |4 oth | |
| 700 | 1 | |a Kawaguchi, Sachie |e investigator |4 oth | |
| 700 | 1 | |a Iwasaki, Satoshi |e investigator |4 oth | |
| 700 | 1 | |a Takahashi, Masahiro |e investigator |4 oth | |
| 700 | 1 | |a Furutate, Sakiko |e investigator |4 oth | |
| 700 | 1 | |a Oka, Shin-Ichiro |e investigator |4 oth | |
| 700 | 1 | |a Yoshihashi, Hiroshi |e investigator |4 oth | |
| 700 | 1 | |a Futagawa, Hiroshi |e investigator |4 oth | |
| 700 | 1 | |a Ohishi, Naoki |e investigator |4 oth | |
| 700 | 1 | |a Hosoya, Makoto |e investigator |4 oth | |
| 700 | 1 | |a Kawashima, Yoshiyuki |e investigator |4 oth | |
| 700 | 1 | |a Ito, Taku |e investigator |4 oth | |
| 700 | 1 | |a Maruyama, Ayako |e investigator |4 oth | |
| 700 | 1 | |a Kumakawa, Kozo |e investigator |4 oth | |
| 700 | 1 | |a Matsunobu, Takeshi |e investigator |4 oth | |
| 700 | 1 | |a Sakuma, Naoko |e investigator |4 oth | |
| 700 | 1 | |a Takahashi, Katsutoshi |e investigator |4 oth | |
| 700 | 1 | |a Kashio, Akinori |e investigator |4 oth | |
| 700 | 1 | |a Monobe, Hiroko |e investigator |4 oth | |
| 700 | 1 | |a Miyoshi, Yuji |e investigator |4 oth | |
| 700 | 1 | |a Yabuki, Kumiko |e investigator |4 oth | |
| 700 | 1 | |a Seto, Yukiko |e investigator |4 oth | |
| 700 | 1 | |a Sano, Hajime |e investigator |4 oth | |
| 700 | 1 | |a Araki, Naomi |e investigator |4 oth | |
| 700 | 1 | |a Arai, Yasuhiro |e investigator |4 oth | |
| 700 | 1 | |a Okami, Mayuri |e investigator |4 oth | |
| 700 | 1 | |a Wasano, Koichiro |e investigator |4 oth | |
| 700 | 1 | |a Hatakeyama, Hiromitsu |e investigator |4 oth | |
| 700 | 1 | |a Isono, Yasuhiro |e investigator |4 oth | |
| 700 | 1 | |a Ohira, Shinya |e investigator |4 oth | |
| 700 | 1 | |a Komori, Manabu |e investigator |4 oth | |
| 700 | 1 | |a Izumi, Shuji |e investigator |4 oth | |
| 700 | 1 | |a Fujisaka, Michiro |e investigator |4 oth | |
| 700 | 1 | |a Watanabe, Atsushi |e investigator |4 oth | |
| 700 | 1 | |a Okamoto, Masayuki |e investigator |4 oth | |
| 700 | 1 | |a Ito, Yumi |e investigator |4 oth | |
| 700 | 1 | |a Takahashi, Mari |e investigator |4 oth | |
| 700 | 1 | |a Miyagawa, Maiko |e investigator |4 oth | |
| 700 | 1 | |a Takumi, Yutaka |e investigator |4 oth | |
| 700 | 1 | |a Yoshimura, Hidekane |e investigator |4 oth | |
| 700 | 1 | |a Shinagawa, Jun |e investigator |4 oth | |
| 700 | 1 | |a Moteki, Hideaki |e investigator |4 oth | |
| 700 | 1 | |a Tsukamoto, Koji |e investigator |4 oth | |
| 700 | 1 | |a Ichinose, Aya |e investigator |4 oth | |
| 700 | 1 | |a Obara, Natsuko |e investigator |4 oth | |
| 700 | 1 | |a Kuza, Bunya |e investigator |4 oth | |
| 700 | 1 | |a Takada, Natsuki |e investigator |4 oth | |
| 700 | 1 | |a Funato, Michinori |e investigator |4 oth | |
| 700 | 1 | |a Nakanishi, Hiroshi |e investigator |4 oth | |
| 700 | 1 | |a Sano, Shin-Ichi |e investigator |4 oth | |
| 773 | 0 | 8 | |i Enthalten in |t Scientific reports |d 2011 |g 14(2024), 1 vom: 09. Apr., Seite 8326 |w (DE-627)NLM215703936 |x 2045-2322 |7 nnns |
| 773 | 1 | 8 | |g volume:14 |g year:2024 |g number:1 |g day:09 |g month:04 |g pages:8326 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1038/s41598-024-57415-1 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 14 |j 2024 |e 1 |b 09 |c 04 |h 8326 | ||