Hearing characteristics of Branchio-oto-renal syndrome in Japan.
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История · было → стало
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Goto Shin-Ichi, Sasaki Akira, Nishio Shin-Ya, Morita Shin-Ya, Ogasawara Noriko, Kobayashi Yumiko, Amano Akiko, Shinkawa Chikako, Oda Kiyoshi, Wada Tetsuro, Ikezono Tetsuo, Matsuda Han, Fujisaka Michiro, Nagai Kyoko, Yoshimura Hidekane, Kashio Akinori, Nishiyama Nobuhiro, Ito Taku, Tajima Shori, Oka Shin-Ichiro, Kaga Kimitaka, Takeda Hidehiko, Kobayashi Marina, Sano Hajime, Arai Yasuhiro, Nakanishi Hiroshi, Koizumi Hiromi, Obara Natsuko, Yoshida Tadao, Esaki Tomoko, Takeuchi Kazuhiko, Yamazaki Hiroshi, Horie Rie, Ohta Yumi, Morimoto Chihiro, Uehara Natsumi, Naito Yasushi, Maeda Yukihide, Ishino Takashi, Egusa Kentaro, Sugahara Kazuma, Teraoka Masato, Kondo Eiji, Tsuchihashi Nana, Kihara Chiharu, Kanda Yukihiko, Nakamura Takeshi, Miyanohara Ikuyo, Kondo Shunsuke, Usami Shin-Ichi
Аннотация
AIMS/OBJECTIVES: In this study, we aimed to clarify the detailed hearing loss phenotypes and genotype-phenotype correlations of BOR syndrome.
MATERIAL AND METHODS: In this study, we performed an etiological analysis of 169 BOR syndrome patients from 129 families. We also performed genetic testing for 78 probands.
RESULTS: In all, 66.7% of BOR patients carried EYA1 variants, whereas 17.9% carried SIX1 variants. We also clarified the detailed clinical features including the prevalence of major and minor symptoms, asymmetrical hearing loss, type of hearing loss, severity of hearing loss and detailed clinical characteristics of auricular, external ear, and middle ear and inner ear anomalies. In terms of genotype-phenotype correlations, patients with SIX1 variants had no kidney anomalies and fewer middle ear anomalies.
CONCLUSIONS AND SIGNIFICANCE: We clarified the detailed hearing loss phenotypes of BOR syndrome patients. Our study results will contribute to a better understanding and clinical management of BOR syndrome patients.