Article
Prevalence and clinical features of hearing loss caused by EYA4 variants.
Scientific reports - 27 Feb 2020
Shinagawa Jun, Moteki Hideaki, Nishio Shin-Ya, Ohyama Kenji, Otsuki Koshi, Iwasaki Satoshi, Masuda Shin, Oshikawa Chie, Ohta Yumi, Arai Yasuhiro, Takahashi Masahiro, Sakuma Naoko, Abe Satoko, Sakurai Yuika, Sakaguchi Hirofumi, Ishino Takashi, Uehara Natsumi, Usami Shin-Ichi
Abstract excerpt
Variants in the EYA4 gene are known to lead to autosomal dominant non-syndromic hereditary hearing loss, DFNA10. To date, 30 variants have been shown to be responsible for hearing loss in a diverse set of nationalities. To better understand the clinical characteristics and prevalence of DFNA10, we performed genetic screening for EYA4 mutations in a large cohort of Japanese hearing loss patients. We selected 1,336...
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