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
N1 - Funding Information:
This study was supported by a Health and Labour Sciences Research Grant for Research on Rare and Intractable Diseases (H29-Nanchito (Nan)-Ippan-031, H29-Nanchito (Nan)-Ippan-007) from the Ministry of Health, Labour and Welfare of Japan (SU), a grant for Practical Research Project for Rare/Intractable Disease from the Japan Agency for Medical Research and Development (AMED) (SU) (18ek0109363h0001), the Program for an Integrated Database of Clinical and Genomic Data from the Japan Agency for Medical Research and Development (AMED) (SU) (16kk0205010h0001) and by a Grant-in-Aid for Scientific Research (A) (15H02565) from the Ministry of Education, Science and Culture of Japan (SU).
Publisher Copyright:
© 2019, The Author(s).
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.
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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 -