Scientific Reports (Aug 2019)
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
Affiliations
- Michie Ideura
- Department of Otorhinolaryngology, Shinshu University School of Medicine
- Shin-ya Nishio
- Department of Otorhinolaryngology, Shinshu University School of Medicine
- Hideaki Moteki
- Department of Otorhinolaryngology, Shinshu University School of Medicine
- Yutaka Takumi
- Department of Otorhinolaryngology, Shinshu University School of Medicine
- Maiko Miyagawa
- Department of Otorhinolaryngology, Shinshu University School of Medicine
- Teruyuki Sato
- Department of Otorhinolaryngology, Head & Neck Surgery, Akita University Graduate School of Medicine
- Yumiko Kobayashi
- Department of Otolaryngology - Head and Neck Surgery, Iwate Medical University
- Kenji Ohyama
- Department of Otorhinolaryngology, Tohoku Rosai Hospital
- Kiyoshi Oda
- Department of Otorhinolaryngology, Tohoku Rosai Hospital
- Takamichi Matsui
- Department of Otolaryngology, Fukushima Medical University
- Tsukasa Ito
- Department of Otolaryngology, Head and Neck Surgery, Yamagata University Faculty of Medicine
- Hiroshi Suzumura
- Department of Pediatrics, Dokkyo Medical University School of Medicine
- Kyoko Nagai
- TAKASAKI Ear Nose & Throat Clinic
- Shuji Izumi
- Department of Otolaryngology Head and Neck Surgery, Niigata University Graduate School of Medical and Dental Sciences
- Nobuhiro Nishiyama
- Department of Otorhinolaryngology - Head and Neck Surgery, Tokyo Medical University
- Manabu Komori
- Department of Otorhinolaryngology, The Jikei University School of Medicine
- Kozo Kumakawa
- Department of Otorhinolaryngology, Toranomon Hospital
- Hidehiko Takeda
- Department of Otorhinolaryngology, Toranomon Hospital
- Yoko Kishimoto
- Department of Medical Genetics and Genomics, Kitasato University Graduate School of Medical Sciences
- Satoshi Iwasaki
- Department of Otorhinolaryngology, International University of Health and Welfare Mita Hospital
- Sakiko Furutate
- Department of Otorhinolaryngology, International University of Health and Welfare Mita Hospital
- Kotaro Ishikawa
- Department of Otolaryngology, National Rehabilitation Center for Persons with Disabilities
- Masato Fujioka
- Department of Otorhinolaryngology - Head and Neck Surgery, Keio University School of Medicine
- Hiroshi Nakanishi
- Department of Otorhinolaryngology/Head and Neck Surgery, Hamamatsu University School of Medicine
- Jun Nakayama
- Department of Otorhinolaryngology, Shiga University School of Medical Science
- Rie Horie
- Department of Otolaryngology, Shiga Medical Center for Children, Moriyama
- Yumi Ohta
- Department of Otorhinolaryngology - Head and Neck Surgery, Osaka University Graduate School of Medicine
- Yasushi Naito
- Departments of Otolaryngology - Head and Neck Surgery, Kobe City Medical Center General Hospital
- Mariko Kakudo
- Department of clinical genetics, Hyogo College of Medicine
- Hirofumi Sakaguchi
- Department of Otorhinolaryngology - Head and Neck Surgery, Kyoto Prefectural University of Medicine
- Yuko Kataoka
- Department of Otolaryngology - Head and Neck Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
- Kazuma Sugahara
- Department of Otolaryngology, Yamaguchi University Graduate School of Medicine
- Naohito Hato
- Department of Otorhinolaryngology, Head and Neck surgery Ehime University, School of Medicine
- Takashi Nakagawa
- Department of Otorhinolaryngology, Graduate School of Medical Sciences, Kyushu University
- Nana Tsuchihashi
- Department of Otorhinolaryngology, Graduate School of Medical Sciences, Kyushu University
- Yukihiko Kanda
- Kanda ENT Clinic, Nagasaki Bell Hearing center
- Chiharu Kihara
- Department of Otolaryngology-Head and Neck Surgery, Nagasaki University Graduate School of Biomedical Sciences
- Tetsuya Tono
- Department of Otolaryngology Head and Neck Surgery, Faculty of Medicine, University of Miyazaki
- Ikuyo Miyanohara
- Department of Otolaryngology - Head and Neck Surgery, Kagoshima University Graduate School of Medical and Dental Sciences
- Akira Ganaha
- Department of Otorhinolaryngology, Head and Neck Surgery, Graduate School of Medicine, University of the Ryukyus
- Shin-ichi Usami
- Department of Otorhinolaryngology, Shinshu University School of Medicine
- DOI
- https://doi.org/10.1038/s41598-019-47141-4
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 13
Abstract
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.
