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Open AccessArticle

Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort

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Department of Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan
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Department of Hearing Implant Sciences, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan
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Department of Otorhinolaryngology, Toranomon Hosipital, 2-2-2 Toranomon, Minato-ku, Tokyo 105-8470, Japan
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Department of Otorhinolaryngology, Hirosaki University School of Medicine, 53 Honcho, Hirosaki, Aomori 036-8203, Japan
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Department of Otolaryngology-Head and Neck Surgery, Tohoku University School of Medicine, 1-1 Seiryomachi, Aoba-ku, Sendai, Miyagi 980-0872, Japan
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Department of Otorhinolaryngology, International University of Health and Welfare, Mita Hospital, 1-4-3 Mita, Minato-ku, Tokyo 108-8329, Japan
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Kanda ENT Clinic, Nagasaki Bell Hearing Center, 4-25 Wakakusa-cho, Nagasaki, Nagasaki 582-8023, Japan
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Department of Otolaryngology-Head and Neck Surgery, Iwate Medical University, 19-1 Uchimaru, Morioka, Iwate 020-8505, Japan
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Department of Otorhinolaryngology, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa 259-1193, Japan
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Department of Otorhinolaryngology-Head and Neck Surgery, Graduate School of Medical Sciences, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, Fukuoka 812-8582, Japan
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Department of Otorhinolaryngology, Yokohama City University Medical Center, 4-57 Urafune, Minami-ku, Yokohama, Kanagawa 232-0024, Japan
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Department of Rehabilitation, Kitasato University School of Alliked Health Sciences, 1-15-1 Kitasato Minami-ku, Sagamihara, Kanagawa 252-0375, Japan
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Department of Otolaryngology-Head and Neck Surgery, Kobe University School of Medicine, 7-5-2 Kusunoki-cho, Chuo-ku, Kobe, Hyogo 650-0017, Japan
*
Author to whom correspondence should be addressed.
Genes 2019, 10(10), 735; https://doi.org/10.3390/genes10100735
Received: 22 July 2019 / Revised: 28 August 2019 / Accepted: 19 September 2019 / Published: 23 September 2019
(This article belongs to the Special Issue Genetic Epidemiology of Deafness)
Variants of the LOXHD1 gene, which are expressed in hair cells of the cochlea and vestibule, have been reported to cause a progressive form of autosomal recessive non-syndromic hereditary hearing loss, DFNB77. In this study, genetic screening was conducted on 8074 Japanese hearing loss patients utilizing massively parallel DNA sequencing to identify individuals with LOXHD1 variants and to assess their phenotypes. A total of 28 affected individuals and 21 LOXHD1 variants were identified, among which 13 were novel variants. A recurrent variant c.4212 + 1G > A, only reported in Japanese patients, was detected in 18 individuals. Haplotype analysis implied that this variation occurred in a mutational hot spot, and that multiple ancestors of Japanese population had this variation. Patients with LOXHD1 variations mostly showed early onset hearing loss and presented different progression rates. We speculated that the varying severities and progression rates of hearing loss are the result of environmental and/or other genetic factors. No accompanying symptoms, including vestibular dysfunction, with hearing loss were detected in this study. Few studies have reported the clinical features of LOXHD1-gene associated hearing loss, and this study is by far the largest study focused on the evaluation of this gene. View Full-Text
Keywords: LOXHD1; non-syndromic hearing loss; DFNB77; recurrent variation; haplotype analysis; cochlear implantation LOXHD1; non-syndromic hearing loss; DFNB77; recurrent variation; haplotype analysis; cochlear implantation
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Maekawa, K.; Nishio, S.-Y.; Abe, S.; Goto, S.-I.; Honkura, Y.; Iwasaki, S.; Kanda, Y.; Kobayashi, Y.; Oka, S.-I.; Okami, M.; Oshikawa, C.; Sakuma, N.; Sano, H.; Shirakura, M.; Uehara, N.; Usami, S.-I. Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort. Genes 2019, 10, 735.

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