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Identification of a Novel Copy Number Variation of EYA4 Causing Autosomal Dominant Non-syndromic Hearing Loss.

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology - 1 Aug 2021

Ishino Takashi, Ogawa Yui, Sonoyama Toru, Taruya Takayuki, Kono Takashi, Hamamoto Takao, Ueda Tsutomu, Takeno Sachio, Moteki Hideaki, Nishio Shin-Ya, Usami Shin-Ichi, Nagano Yuka, Yoshimura Akiko, Yoshikawa Kohei, Kato Mikako, Ichimoto Masaya, Watanabe Rina

Abstract excerpt

OBJECTIVE: Eyes absent 4 (EYA4) is the causative gene of autosomal dominant non-syndromic hereditary hearing loss, DFNA10. We aimed to identify a copy number variation of EYA4 in a non-syndromic sensory neural hearing loss pedigree. FAMILY AND CLINICAL EVALUATION: A Japanese family showing late-onset and progressive hearing loss was evaluated. A pattern of autosomal dominant inheritance of hearing loss was...

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Identifiers

PMID: 33859130
DOI: 10.1097/MAO.0000000000003169

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