Comprehensive analysis of syndromic hearing loss patients in Japan

Michie Ideura; Shin ya Nishio; Hideaki Moteki; Yutaka Takumi; Maiko Miyagawa; Teruyuki Sato; Yumiko Kobayashi; Kenji Ohyama; Kiyoshi Oda; Takamichi Matsui; Tsukasa Ito; Hiroshi Suzumura; Kyoko Nagai; Shuji Izumi; Nobuhiro Nishiyama; Manabu Komori; Kozo Kumakawa; Hidehiko Takeda; Yoko Kishimoto; Satoshi Iwasaki; Sakiko Furutate; Kotaro Ishikawa; Masato Fujioka; Hiroshi Nakanishi; Jun Nakayama; Rie Horie; Yumi Ohta; Yasushi Naito; Mariko Kakudo; Hirofumi Sakaguchi; Yuko Kataoka; Kazuma Sugahara; Naohito Hato; Takashi Nakagawa; Nana Tsuchihashi; Yukihiko Kanda; Chiharu Kihara; Tetsuya Tono; Ikuyo Miyanohara; Akira Ganaha; Shin ichi Usami

doi:10.1038/s41598-019-47141-4

Comprehensive analysis of syndromic hearing loss patients in Japan

Michie Ideura, Shin ya Nishio, Hideaki Moteki, Yutaka Takumi, Maiko Miyagawa, Teruyuki Sato, Yumiko Kobayashi, Kenji Ohyama, Kiyoshi Oda, Takamichi Matsui, Tsukasa Ito, Hiroshi Suzumura, Kyoko Nagai, Shuji Izumi, Nobuhiro Nishiyama, Manabu Komori, Kozo Kumakawa, Hidehiko Takeda, Yoko Kishimoto, Satoshi IwasakiSakiko Furutate, Kotaro Ishikawa, Masato Fujioka, Hiroshi Nakanishi, Jun Nakayama, Rie Horie, Yumi Ohta, Yasushi Naito, Mariko Kakudo, Hirofumi Sakaguchi, Yuko Kataoka, Kazuma Sugahara, Naohito Hato, Takashi Nakagawa, Nana Tsuchihashi, Yukihiko Kanda, Chiharu Kihara, Tetsuya Tono, Ikuyo Miyanohara, Akira Ganaha, Shin ichi Usami

Department of Otorhinolaryngology

Research output: Contribution to journal › Article › peer-review

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Abstract

More than 400 syndromes associated with hearing loss and other symptoms have been described, corresponding to 30% of cases of hereditary hearing loss. In this study we aimed to clarify the mutation spectrum of syndromic hearing loss patients in Japan by using next-generation sequencing analysis with a multiple syndromic targeted resequencing panel (36 target genes). We analyzed single nucleotide variants, small insertions, deletions and copy number variations in the target genes. We enrolled 140 patients with any of 14 syndromes (BOR syndrome, Waardenburg syndrome, osteogenesis imperfecta, spondyloepiphyseal dysplasia congenita, Stickler syndrome, CHARGE syndrome, Jervell and Lange-Nielsen syndrome, Pendred syndrome, Klippel-Feil syndrome, Alport syndrome, Norrie disease, Treacher-Collins syndrome, Perrault syndrome and auditory neuropathy with optic atrophy) and identified the causative variants in 56% of the patients. This analysis could identify the causative variants in syndromic hearing loss patients in a short time with a high diagnostic rate. In addition, it was useful for the analysis of the cases who only partially fulfilled the diagnostic criteria.

Original language	English
Article number	11976
Journal	Scientific reports
Volume	9
Issue number	1
DOIs	https://doi.org/10.1038/s41598-019-47141-4
Publication status	Published - 2019 Dec 1

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Ideura, M., Nishio, S. Y., Moteki, H., Takumi, Y., Miyagawa, M., Sato, T., Kobayashi, Y., Ohyama, K., Oda, K., Matsui, T., Ito, T., Suzumura, H., Nagai, K., Izumi, S., Nishiyama, N., Komori, M., Kumakawa, K., Takeda, H., Kishimoto, Y., ... Usami, S. I. (2019). Comprehensive analysis of syndromic hearing loss patients in Japan. Scientific reports, 9(1), Article 11976. https://doi.org/10.1038/s41598-019-47141-4

Ideura, M, Nishio, SY, Moteki, H, Takumi, Y, Miyagawa, M, Sato, T, Kobayashi, Y, Ohyama, K, Oda, K, Matsui, T, Ito, T, Suzumura, H, Nagai, K, Izumi, S, Nishiyama, N, Komori, M, Kumakawa, K, Takeda, H, Kishimoto, Y, Iwasaki, S, Furutate, S, Ishikawa, K, Fujioka, M, Nakanishi, H, Nakayama, J, Horie, R, Ohta, Y, Naito, Y, Kakudo, M, Sakaguchi, H, Kataoka, Y, Sugahara, K, Hato, N, Nakagawa, T, Tsuchihashi, N, Kanda, Y, Kihara, C, Tono, T, Miyanohara, I, Ganaha, A & Usami, SI 2019, 'Comprehensive analysis of syndromic hearing loss patients in Japan', Scientific reports, vol. 9, no. 1, 11976. https://doi.org/10.1038/s41598-019-47141-4

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title = "Comprehensive analysis of syndromic hearing loss patients in Japan",

abstract = "More than 400 syndromes associated with hearing loss and other symptoms have been described, corresponding to 30% of cases of hereditary hearing loss. In this study we aimed to clarify the mutation spectrum of syndromic hearing loss patients in Japan by using next-generation sequencing analysis with a multiple syndromic targeted resequencing panel (36 target genes). We analyzed single nucleotide variants, small insertions, deletions and copy number variations in the target genes. We enrolled 140 patients with any of 14 syndromes (BOR syndrome, Waardenburg syndrome, osteogenesis imperfecta, spondyloepiphyseal dysplasia congenita, Stickler syndrome, CHARGE syndrome, Jervell and Lange-Nielsen syndrome, Pendred syndrome, Klippel-Feil syndrome, Alport syndrome, Norrie disease, Treacher-Collins syndrome, Perrault syndrome and auditory neuropathy with optic atrophy) and identified the causative variants in 56% of the patients. This analysis could identify the causative variants in syndromic hearing loss patients in a short time with a high diagnostic rate. In addition, it was useful for the analysis of the cases who only partially fulfilled the diagnostic criteria.",

author = "Michie Ideura and Nishio, {Shin ya} and Hideaki Moteki and Yutaka Takumi and Maiko Miyagawa and Teruyuki Sato and Yumiko Kobayashi and Kenji Ohyama and Kiyoshi Oda and Takamichi Matsui and Tsukasa Ito and Hiroshi Suzumura and Kyoko Nagai and Shuji Izumi and Nobuhiro Nishiyama and Manabu Komori and Kozo Kumakawa and Hidehiko Takeda and Yoko Kishimoto and Satoshi Iwasaki and Sakiko Furutate and Kotaro Ishikawa and Masato Fujioka and Hiroshi Nakanishi and Jun Nakayama and Rie Horie and Yumi Ohta and Yasushi Naito and Mariko Kakudo and Hirofumi Sakaguchi and Yuko Kataoka and Kazuma Sugahara and Naohito Hato and Takashi Nakagawa and Nana Tsuchihashi and Yukihiko Kanda and Chiharu Kihara and Tetsuya Tono and Ikuyo Miyanohara and Akira Ganaha and Usami, {Shin ichi}",

note = "Funding Information: This study was supported by a Health and Labour Sciences Research Grant for Research on Rare and Intractable Diseases (H29-Nanchito (Nan)-Ippan-031, H29-Nanchito (Nan)-Ippan-007) from the Ministry of Health, Labour and Welfare of Japan (SU), a grant for Practical Research Project for Rare/Intractable Disease from the Japan Agency for Medical Research and Development (AMED) (SU) (18ek0109363h0001), the Program for an Integrated Database of Clinical and Genomic Data from the Japan Agency for Medical Research and Development (AMED) (SU) (16kk0205010h0001) and by a Grant-in-Aid for Scientific Research (A) (15H02565) from the Ministry of Education, Science and Culture of Japan (SU). Publisher Copyright: {\textcopyright} 2019, The Author(s).",

year = "2019",

month = dec,

day = "1",

doi = "10.1038/s41598-019-47141-4",

language = "English",

volume = "9",

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issn = "2045-2322",

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T1 - Comprehensive analysis of syndromic hearing loss patients in Japan

AU - Ideura, Michie

AU - Nishio, Shin ya

AU - Moteki, Hideaki

AU - Takumi, Yutaka

AU - Miyagawa, Maiko

AU - Sato, Teruyuki

AU - Kobayashi, Yumiko

AU - Ohyama, Kenji

AU - Oda, Kiyoshi

AU - Matsui, Takamichi

AU - Ito, Tsukasa

AU - Suzumura, Hiroshi

AU - Nagai, Kyoko

AU - Izumi, Shuji

AU - Nishiyama, Nobuhiro

AU - Komori, Manabu

AU - Kumakawa, Kozo

AU - Takeda, Hidehiko

AU - Kishimoto, Yoko

AU - Iwasaki, Satoshi

AU - Furutate, Sakiko

AU - Ishikawa, Kotaro

AU - Fujioka, Masato

AU - Nakanishi, Hiroshi

AU - Nakayama, Jun

AU - Horie, Rie

AU - Ohta, Yumi

AU - Naito, Yasushi

AU - Kakudo, Mariko

AU - Sakaguchi, Hirofumi

AU - Kataoka, Yuko

AU - Sugahara, Kazuma

AU - Hato, Naohito

AU - Nakagawa, Takashi

AU - Tsuchihashi, Nana

AU - Kanda, Yukihiko

AU - Kihara, Chiharu

AU - Tono, Tetsuya

AU - Miyanohara, Ikuyo

AU - Ganaha, Akira

AU - Usami, Shin ichi

N1 - Funding Information: This study was supported by a Health and Labour Sciences Research Grant for Research on Rare and Intractable Diseases (H29-Nanchito (Nan)-Ippan-031, H29-Nanchito (Nan)-Ippan-007) from the Ministry of Health, Labour and Welfare of Japan (SU), a grant for Practical Research Project for Rare/Intractable Disease from the Japan Agency for Medical Research and Development (AMED) (SU) (18ek0109363h0001), the Program for an Integrated Database of Clinical and Genomic Data from the Japan Agency for Medical Research and Development (AMED) (SU) (16kk0205010h0001) and by a Grant-in-Aid for Scientific Research (A) (15H02565) from the Ministry of Education, Science and Culture of Japan (SU). Publisher Copyright: © 2019, The Author(s).

PY - 2019/12/1

Y1 - 2019/12/1

N2 - More than 400 syndromes associated with hearing loss and other symptoms have been described, corresponding to 30% of cases of hereditary hearing loss. In this study we aimed to clarify the mutation spectrum of syndromic hearing loss patients in Japan by using next-generation sequencing analysis with a multiple syndromic targeted resequencing panel (36 target genes). We analyzed single nucleotide variants, small insertions, deletions and copy number variations in the target genes. We enrolled 140 patients with any of 14 syndromes (BOR syndrome, Waardenburg syndrome, osteogenesis imperfecta, spondyloepiphyseal dysplasia congenita, Stickler syndrome, CHARGE syndrome, Jervell and Lange-Nielsen syndrome, Pendred syndrome, Klippel-Feil syndrome, Alport syndrome, Norrie disease, Treacher-Collins syndrome, Perrault syndrome and auditory neuropathy with optic atrophy) and identified the causative variants in 56% of the patients. This analysis could identify the causative variants in syndromic hearing loss patients in a short time with a high diagnostic rate. In addition, it was useful for the analysis of the cases who only partially fulfilled the diagnostic criteria.

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Comprehensive analysis of syndromic hearing loss patients in Japan

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