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Sci Rep. 2019 Aug 19;9(1):11976. doi: 10.1038/s41598-019-47141-4.

Comprehensive analysis of syndromic hearing loss patients in Japan.

Author information

1
Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan.
2
Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan.
3
Department of Otorhinolaryngology, Head & Neck Surgery, Akita University Graduate School of Medicine, Akita, Japan.
4
Department of Otolaryngology - Head and Neck Surgery, Iwate Medical University, Morioka, Japan.
5
Department of Otorhinolaryngology, Tohoku Rosai Hospital, Sendai, Japan.
6
Department of Otolaryngology, Fukushima Medical University, Fukushima, Japan.
7
Department of Otolaryngology, Head and Neck Surgery, Yamagata University Faculty of Medicine, Yamagata, Japan.
8
Department of Pediatrics, Dokkyo Medical University School of Medicine, Mibu, Japan.
9
TAKASAKI Ear Nose & Throat Clinic, Takasaki, Japan.
10
Department of Otolaryngology Head and Neck Surgery, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
11
Department of Otorhinolaryngology - Head and Neck Surgery, Tokyo Medical University, Tokyo, Japan.
12
Department of Otorhinolaryngology, The Jikei University School of Medicine, Tokyo, Japan.
13
Department of Otorhinolaryngology, Toranomon Hospital, Tokyo, Japan.
14
Department of Medical Genetics and Genomics, Kitasato University Graduate School of Medical Sciences, Sagamihara, Japan.
15
Department of Otorhinolaryngology, International University of Health and Welfare Mita Hospital, Tokyo, Japan.
16
Department of Otolaryngology, National Rehabilitation Center for Persons with Disabilities, Tokorozawa, Saitama, Japan.
17
Department of Otorhinolaryngology - Head and Neck Surgery, Keio University School of Medicine, Tokyo, Japan.
18
Department of Otorhinolaryngology/Head and Neck Surgery, Hamamatsu University School of Medicine, Hamamatsu, Japan.
19
Department of Otorhinolaryngology, Shiga University School of Medical Science, Otsu, Japan.
20
Department of Otolaryngology, Shiga Medical Center for Children, Moriyama, Shiga, Japan.
21
Department of Otorhinolaryngology - Head and Neck Surgery, Osaka University Graduate School of Medicine, Suita, Japan.
22
Departments of Otolaryngology - Head and Neck Surgery, Kobe City Medical Center General Hospital, Kobe, Japan.
23
Department of clinical genetics, Hyogo College of Medicine, Nishinomiya, Japan.
24
Department of Otorhinolaryngology - Head and Neck Surgery, Kyoto Prefectural University of Medicine, Kyoto, Japan.
25
Department of Otolaryngology - Head and Neck Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
26
Department of Otolaryngology, Yamaguchi University Graduate School of Medicine, Ube, Japan.
27
Department of Otorhinolaryngology, Head and Neck surgery Ehime University, School of Medicine, Toon, Japan.
28
Department of Otorhinolaryngology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
29
Kanda ENT Clinic, Nagasaki Bell Hearing center, Nagasaki, Japan.
30
Department of Otolaryngology-Head and Neck Surgery, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
31
Department of Otolaryngology Head and Neck Surgery, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
32
Department of Otolaryngology - Head and Neck Surgery, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
33
Department of Otorhinolaryngology, Head and Neck Surgery, Graduate School of Medicine, University of the Ryukyus, Nishihara-cho, Japan.
34
Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan. usami@shinshu-u.ac.jp.
35
Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan. usami@shinshu-u.ac.jp.

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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