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 language | English |
|---|---|
| Article number | 11976 |
| Journal | Scientific reports |
| Volume | 9 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Dec 1 2019 |
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All Science Journal Classification (ASJC) codes
- General
Cite this
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 journal › Article
}
TY - JOUR
T1 - Comprehensive analysis of syndromic hearing loss patients in Japan
AU - Ideura, Michie
AU - Nishio, Shin ya
AU - Moteki, Hideaki
AU - Takumi, Yutaka
AU - Miyagawa, Maiko
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
PY - 2019/12/1
Y1 - 2019/12/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85070836632&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85070836632&partnerID=8YFLogxK
U2 - 10.1038/s41598-019-47141-4
DO - 10.1038/s41598-019-47141-4
M3 - Article
C2 - 31427586
AN - SCOPUS:85070836632
VL - 9
JO - Scientific Reports
JF - Scientific Reports
SN - 2045-2322
IS - 1
M1 - 11976
ER -