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Open AccessArticle

Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss

1
Department of Otorhinolaryngology, School of Medicine, Shinshu University, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan
2
Department of Hearing Implant Sciences, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan
3
Department of Medical Genetics, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan
4
Center for Medical Genetics, Shinshu University Hospital, Matsumoto Nagano 390-8621, Japan
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Department of Otorhinolaryngology, Toranomon Hospital, 2-2-2 Toranomon, Minato-ku, Tokyo 105-8470, Japan
6
Department of Otorhinolaryngology-Head and Neck Surgery, Osaka Medical College, 2-7 Daigaku-machi, Takatsuki, Osaka 569-8686, Japan
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Department of Otorhinolaryngology, Juntendo University, 2-1-1 Hongo, Bunkyo-ku 113-8421, Japan
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Department of Otolaryngology, Head and Neck Surgery, Yamagata University Faculty of Medicine, 2-2-2 Iida-Nishi, Yamagata-shi, Yamagata 990-9585, Japan
9
Department of Otolaryngology, Head and Neck Surgery, Ehime University Graduate School of Medicine, 454 Shitsukawa, Toon, Ehime 791-0295, Japan
10
Department of Otolaryngology-Head & Neck Surgery, Iwate Medical University, 19-1 Uchimaru, Morioka, Iwate 020-8505, Japan
*
Author to whom correspondence should be addressed.
Genes 2019, 10(9), 715; https://doi.org/10.3390/genes10090715
Received: 1 August 2019 / Revised: 9 September 2019 / Accepted: 12 September 2019 / Published: 16 September 2019
(This article belongs to the Special Issue Genetic Epidemiology of Deafness)
The OTOA gene (Locus: DFNB22) is reported to be one of the causative genes for non-syndromic autosomal recessive hearing loss. The copy number variations (CNVs) identified in this gene are also known to cause hearing loss, but have not been identified in Japanese patients with hearing loss. Furthermore, the clinical features of OTOA-associated hearing loss have not yet been clarified. In this study, we performed CNV analyses of a large Japanese hearing loss cohort, and identified CNVs in 234 of 2262 (10.3%, 234/2262) patients with autosomal recessive hearing loss. Among the identified CNVs, OTOA gene-related CNVs were the second most frequent (0.6%, 14/2262). Among the 14 cases, 2 individuals carried OTOA homozygous deletions, 4 carried heterozygous deletions with single nucleotide variants (SNVs) in another allele. Additionally, 1 individual with homozygous SNVs in the OTOA gene was also identified. Finally, we identified 7 probands with OTOA-associated hearing loss, so that its prevalence in Japanese patients with autosomal recessive hearing loss was calculated to be 0.3% (7/2262). As novel clinical features identified in this study, the audiometric configurations of patients with OTOA-associated hearing loss were found to be mid-frequency. This is the first study focused on the detailed clinical features of hearing loss caused by this gene mutation and/or gene deletion. View Full-Text
Keywords: OTOA; DFNB22; hearing loss; copy number variations OTOA; DFNB22; hearing loss; copy number variations
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Sugiyama, K.; Moteki, H.; Kitajiri, S.-I.; Kitano, T.; Nishio, S.-Y.; Yamaguchi, T.; Wakui, K.; Abe, S.; Ozaki, A.; Motegi, R.; Matsui, H.; Teraoka, M.; Kobayashi, Y.; Kosho, T.; Usami, S.-I. Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss. Genes 2019, 10, 715.

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