Comprehensive analysis of syndromic hearing loss patients in Japan

• Published in: Scientific reports Vol. 9; no. 1; pp. 11976 - 13
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 19.08.2019; Nature Publishing Group; Nature Portfolio
• Subjects: 45; 45/22; 45/23; 692/308/2056; 692/420/2489/1512; Alleles; Alport syndrome; Atrophy; Branchio-oto-renal syndrome; CHARGE syndrome; Copy number; Disease Susceptibility; Dysplasia; Family; Genetic Association Studies; Genetic Predisposition to Disease; Genetic Testing; Genotype; Hearing loss; Hearing Loss - diagnosis; Hearing Loss - epidemiology; Hearing Loss - etiology; Hearing protection; Humanities and Social Sciences; Humans; Japan - epidemiology; Jervell and Lange-Nielsen syndrome; Klippel-Feil syndrome; multidisciplinary; Mutation; Next-generation sequencing; Norrie disease; Optic atrophy; Optic neuropathy; Osteogenesis; Osteogenesis imperfecta; Phenotype; Prevalence; Public Health Surveillance; Science; Science (multidisciplinary); Syndrome; Japan
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/s41598-019-47141-4

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.