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

Research output: Contribution to journalArticle

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 languageEnglish
Article number11976
JournalScientific reports
Volume9
Issue number1
DOIs
Publication statusPublished - Dec 1 2019

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Hearing Loss
Japan
Jervell-Lange Nielsen Syndrome
Branchio-Oto-Renal Syndrome
CHARGE Syndrome
Klippel-Feil Syndrome
Waardenburg Syndrome
Mandibulofacial Dysostosis
Hereditary Nephritis
Optic Atrophy
Osteogenesis Imperfecta
Genes
Nucleotides
Mutation

All Science Journal Classification (ASJC) codes

  • General

Cite this

Ideura, M., Nishio, S. Y., Moteki, H., Takumi, Y., Miyagawa, M., Sato, T., ... Usami, S. I. (2019). Comprehensive analysis of syndromic hearing loss patients in Japan. Scientific reports, 9(1), [11976]. https://doi.org/10.1038/s41598-019-47141-4

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

In: Scientific reports, Vol. 9, No. 1, 11976, 01.12.2019.

Research output: Contribution to journalArticle

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
Ideura M, Nishio SY, Moteki H, Takumi Y, Miyagawa M, Sato T et al. Comprehensive analysis of syndromic hearing loss patients in Japan. Scientific reports. 2019 Dec 1;9(1). 11976. https://doi.org/10.1038/s41598-019-47141-4
Ideura, Michie ; Nishio, Shin ya ; Moteki, Hideaki ; Takumi, Yutaka ; Miyagawa, Maiko ; Sato, Teruyuki ; Kobayashi, Yumiko ; Ohyama, Kenji ; Oda, Kiyoshi ; Matsui, Takamichi ; Ito, Tsukasa ; Suzumura, Hiroshi ; Nagai, Kyoko ; Izumi, Shuji ; Nishiyama, Nobuhiro ; Komori, Manabu ; Kumakawa, Kozo ; Takeda, Hidehiko ; Kishimoto, Yoko ; Iwasaki, Satoshi ; Furutate, Sakiko ; Ishikawa, Kotaro ; Fujioka, Masato ; Nakanishi, Hiroshi ; Nakayama, Jun ; Horie, Rie ; Ohta, Yumi ; Naito, Yasushi ; Kakudo, Mariko ; Sakaguchi, Hirofumi ; Kataoka, Yuko ; Sugahara, Kazuma ; Hato, Naohito ; Nakagawa, Takashi ; Tsuchihashi, Nana ; Kanda, Yukihiko ; Kihara, Chiharu ; Tono, Tetsuya ; Miyanohara, Ikuyo ; Ganaha, Akira ; Usami, Shin ichi. / Comprehensive analysis of syndromic hearing loss patients in Japan. In: Scientific reports. 2019 ; Vol. 9, No. 1.
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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.",
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AU - Nishio, Shin ya

AU - Moteki, Hideaki

AU - Takumi, Yutaka

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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

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