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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ASJC Scopus subject areas

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Cite this

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), [11976]. https://doi.org/10.1038/s41598-019-47141-4