Prevalence and Clinical Characteristics of Hearing Loss Caused by <em>MYH14</em> Variants
Variants in <i>MYH14</i> are reported to cause autosomal dominant nonsyndromic hereditary hearing loss (ADNSHL), with 34 variants reported to cause hearing loss in various ethnic groups. However, the available information on prevalence, as well as with regard to clinical features, remain...
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MDPI AG
2021-10-01
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| author | Ken Hiramatsu Shin-ya Nishio Shin-ichiro Kitajiri Tomohiro Kitano Hideaki Moteki Shin-ichi Usami on behalf of the Deafness Gene Study Consortium |
| author_facet | Ken Hiramatsu Shin-ya Nishio Shin-ichiro Kitajiri Tomohiro Kitano Hideaki Moteki Shin-ichi Usami on behalf of the Deafness Gene Study Consortium |
| author_sort | Ken Hiramatsu |
| collection | DOAJ |
| description | Variants in <i>MYH14</i> are reported to cause autosomal dominant nonsyndromic hereditary hearing loss (ADNSHL), with 34 variants reported to cause hearing loss in various ethnic groups. However, the available information on prevalence, as well as with regard to clinical features, remains fragmentary. In this study, genetic screening for <i>MYH14</i> variants was carried out using a large series of Japanese hearing-loss patients to reveal more detailed information. Massively parallel DNA sequencing of 68 target candidate genes was applied in 8074 unrelated Japanese hearing-loss patients (including 1336 with ADNSHL) to identify genomic variations responsible for hearing loss. We identified 11 families with 10 variants. The prevalence was found to be 0.14% (11/8074) among all hearing-loss patients and 0.82% (11/1336) among ADNSHL patients. Nine of the eleven variants identified were novel. The patients typically showed late-onset hearing loss arising later than 20 years of age (64.3%, 9/14) along with progressive (92.3%, 12/13), moderate (62.5%, 10/16), and flat-type hearing loss (68.8%, 11/16). We also confirmed progressive hearing loss in serial audiograms. The clinical information revealed by the present study will contribute to further diagnosis and management of <i>MYH14</i>-associated hearing loss. |
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| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T06:32:40Z |
| publishDate | 2021-10-01 |
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| series | Genes |
| spelling | doaj.art-5925c502a8bd4808b1d86b803eedd5dc2023-11-22T18:22:54ZengMDPI AGGenes2073-44252021-10-011210162310.3390/genes12101623Prevalence and Clinical Characteristics of Hearing Loss Caused by <em>MYH14</em> VariantsKen Hiramatsu0Shin-ya Nishio1Shin-ichiro Kitajiri2Tomohiro Kitano3Hideaki Moteki4Shin-ichi Usami5on behalf of the Deafness Gene Study ConsortiumDepartment of Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, JapanDepartment of Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, JapanDepartment of Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, JapanDepartment of Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, JapanDepartment of Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, JapanDepartment of Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, JapanVariants in <i>MYH14</i> are reported to cause autosomal dominant nonsyndromic hereditary hearing loss (ADNSHL), with 34 variants reported to cause hearing loss in various ethnic groups. However, the available information on prevalence, as well as with regard to clinical features, remains fragmentary. In this study, genetic screening for <i>MYH14</i> variants was carried out using a large series of Japanese hearing-loss patients to reveal more detailed information. Massively parallel DNA sequencing of 68 target candidate genes was applied in 8074 unrelated Japanese hearing-loss patients (including 1336 with ADNSHL) to identify genomic variations responsible for hearing loss. We identified 11 families with 10 variants. The prevalence was found to be 0.14% (11/8074) among all hearing-loss patients and 0.82% (11/1336) among ADNSHL patients. Nine of the eleven variants identified were novel. The patients typically showed late-onset hearing loss arising later than 20 years of age (64.3%, 9/14) along with progressive (92.3%, 12/13), moderate (62.5%, 10/16), and flat-type hearing loss (68.8%, 11/16). We also confirmed progressive hearing loss in serial audiograms. The clinical information revealed by the present study will contribute to further diagnosis and management of <i>MYH14</i>-associated hearing loss.https://www.mdpi.com/2073-4425/12/10/1623<i>MYH14</i>nonsyndromic hearing lossDFNA4postlingual onset hearing losslate-onset hearing lossprogressive hearing loss |
| spellingShingle | Ken Hiramatsu Shin-ya Nishio Shin-ichiro Kitajiri Tomohiro Kitano Hideaki Moteki Shin-ichi Usami on behalf of the Deafness Gene Study Consortium Prevalence and Clinical Characteristics of Hearing Loss Caused by <em>MYH14</em> Variants Genes <i>MYH14</i> nonsyndromic hearing loss DFNA4 postlingual onset hearing loss late-onset hearing loss progressive hearing loss |
| title | Prevalence and Clinical Characteristics of Hearing Loss Caused by <em>MYH14</em> Variants |
| title_full | Prevalence and Clinical Characteristics of Hearing Loss Caused by <em>MYH14</em> Variants |
| title_fullStr | Prevalence and Clinical Characteristics of Hearing Loss Caused by <em>MYH14</em> Variants |
| title_full_unstemmed | Prevalence and Clinical Characteristics of Hearing Loss Caused by <em>MYH14</em> Variants |
| title_short | Prevalence and Clinical Characteristics of Hearing Loss Caused by <em>MYH14</em> Variants |
| title_sort | prevalence and clinical characteristics of hearing loss caused by em myh14 em variants |
| topic | <i>MYH14</i> nonsyndromic hearing loss DFNA4 postlingual onset hearing loss late-onset hearing loss progressive hearing loss |
| url | https://www.mdpi.com/2073-4425/12/10/1623 |
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