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 anal...
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Nature Portfolio
2019
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oai:doaj.org-article:96252fd9eecb4e0fb430b805ec9cf43d2021-12-02T16:07:54ZComprehensive analysis of syndromic hearing loss patients in Japan10.1038/s41598-019-47141-42045-2322https://doaj.org/article/96252fd9eecb4e0fb430b805ec9cf43d2019-08-01T00:00:00Zhttps://doi.org/10.1038/s41598-019-47141-4https://doaj.org/toc/2045-2322Abstract 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.Michie IdeuraShin-ya NishioHideaki MotekiYutaka TakumiMaiko MiyagawaTeruyuki SatoYumiko KobayashiKenji OhyamaKiyoshi OdaTakamichi MatsuiTsukasa ItoHiroshi SuzumuraKyoko NagaiShuji IzumiNobuhiro NishiyamaManabu KomoriKozo KumakawaHidehiko TakedaYoko KishimotoSatoshi IwasakiSakiko FurutateKotaro IshikawaMasato FujiokaHiroshi NakanishiJun NakayamaRie HorieYumi OhtaYasushi NaitoMariko KakudoHirofumi SakaguchiYuko KataokaKazuma SugaharaNaohito HatoTakashi NakagawaNana TsuchihashiYukihiko KandaChiharu KiharaTetsuya TonoIkuyo MiyanoharaAkira GanahaShin-ichi UsamiNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 9, Iss 1, Pp 1-13 (2019) |
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Medicine R Science Q 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 Comprehensive analysis of syndromic hearing loss patients in Japan |
| description |
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. |
| format |
article |
| author |
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 |
| author_facet |
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 |
| author_sort |
Michie Ideura |
| title |
Comprehensive analysis of syndromic hearing loss patients in Japan |
| title_short |
Comprehensive analysis of syndromic hearing loss patients in Japan |
| title_full |
Comprehensive analysis of syndromic hearing loss patients in Japan |
| title_fullStr |
Comprehensive analysis of syndromic hearing loss patients in Japan |
| title_full_unstemmed |
Comprehensive analysis of syndromic hearing loss patients in Japan |
| title_sort |
comprehensive analysis of syndromic hearing loss patients in japan |
| publisher |
Nature Portfolio |
| publishDate |
2019 |
| url |
https://doaj.org/article/96252fd9eecb4e0fb430b805ec9cf43d |
| work_keys_str_mv |
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