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OTOF mutation screening in Japanese severe to profound recessive hearing loss patients
BACKGROUND: Auditory neuropathy spectrum disorder (ANSD) is a unique form of hearing loss that involves absence or severe abnormality of auditory brainstem response (ABR), but also the presence of otoacoustic emissions (OAEs). However, with age, the OAEs disappear, making it difficult to distinguish...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3849620/ https://www.ncbi.nlm.nih.gov/pubmed/24053799 http://dx.doi.org/10.1186/1471-2350-14-95 |
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author | Iwasa, Yoh-ichiro Nishio, Shin-ya Yoshimura, Hidekane Kanda, Yukihiko Kumakawa, Kozo Abe, Satoko Naito, Yasushi Nagai, Kyoko Usami, Shin-ichi |
author_facet | Iwasa, Yoh-ichiro Nishio, Shin-ya Yoshimura, Hidekane Kanda, Yukihiko Kumakawa, Kozo Abe, Satoko Naito, Yasushi Nagai, Kyoko Usami, Shin-ichi |
author_sort | Iwasa, Yoh-ichiro |
collection | PubMed |
description | BACKGROUND: Auditory neuropathy spectrum disorder (ANSD) is a unique form of hearing loss that involves absence or severe abnormality of auditory brainstem response (ABR), but also the presence of otoacoustic emissions (OAEs). However, with age, the OAEs disappear, making it difficult to distinguish this condition from other nonsyndromic hearing loss. Therefore, the frequency of ANSD may be underestimated. The aim of this study was to determine what portion of nonsyndromic hearing loss is caused by mutations of OTOF, the major responsible gene for nonsyndromic ANSD. METHODS: We screened 160 unrelated Japanese with severe to profound recessive nonsyndromic hearing loss (ARNSHL) without GJB2 or SLC26A4 mutations, and 192 controls with normal hearing. RESULTS: We identified five pathogenic OTOF mutations (p.D398E, p.Y474X, p.N727S, p.R1856Q and p.R1939Q) and six novel, possibly pathogenic variants (p.D450E, p.W717X, p.S1368X, p.R1583H, p.V1778I, and p.E1803A). CONCLUSIONS: The present study showed that OTOF mutations accounted for 3.2–7.3% of severe to profound ARNSHL patients in Japan. OTOF mutations are thus a frequent cause in the Japanese deafness population and mutation screening should be considered regardless of the presence/absence of OAEs. |
format | Online Article Text |
id | pubmed-3849620 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-38496202013-12-05 OTOF mutation screening in Japanese severe to profound recessive hearing loss patients Iwasa, Yoh-ichiro Nishio, Shin-ya Yoshimura, Hidekane Kanda, Yukihiko Kumakawa, Kozo Abe, Satoko Naito, Yasushi Nagai, Kyoko Usami, Shin-ichi BMC Med Genet Research Article BACKGROUND: Auditory neuropathy spectrum disorder (ANSD) is a unique form of hearing loss that involves absence or severe abnormality of auditory brainstem response (ABR), but also the presence of otoacoustic emissions (OAEs). However, with age, the OAEs disappear, making it difficult to distinguish this condition from other nonsyndromic hearing loss. Therefore, the frequency of ANSD may be underestimated. The aim of this study was to determine what portion of nonsyndromic hearing loss is caused by mutations of OTOF, the major responsible gene for nonsyndromic ANSD. METHODS: We screened 160 unrelated Japanese with severe to profound recessive nonsyndromic hearing loss (ARNSHL) without GJB2 or SLC26A4 mutations, and 192 controls with normal hearing. RESULTS: We identified five pathogenic OTOF mutations (p.D398E, p.Y474X, p.N727S, p.R1856Q and p.R1939Q) and six novel, possibly pathogenic variants (p.D450E, p.W717X, p.S1368X, p.R1583H, p.V1778I, and p.E1803A). CONCLUSIONS: The present study showed that OTOF mutations accounted for 3.2–7.3% of severe to profound ARNSHL patients in Japan. OTOF mutations are thus a frequent cause in the Japanese deafness population and mutation screening should be considered regardless of the presence/absence of OAEs. BioMed Central 2013-09-22 /pmc/articles/PMC3849620/ /pubmed/24053799 http://dx.doi.org/10.1186/1471-2350-14-95 Text en Copyright © 2013 Iwasa et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Article Iwasa, Yoh-ichiro Nishio, Shin-ya Yoshimura, Hidekane Kanda, Yukihiko Kumakawa, Kozo Abe, Satoko Naito, Yasushi Nagai, Kyoko Usami, Shin-ichi OTOF mutation screening in Japanese severe to profound recessive hearing loss patients |
title | OTOF mutation screening in Japanese severe to profound recessive hearing loss patients |
title_full | OTOF mutation screening in Japanese severe to profound recessive hearing loss patients |
title_fullStr | OTOF mutation screening in Japanese severe to profound recessive hearing loss patients |
title_full_unstemmed | OTOF mutation screening in Japanese severe to profound recessive hearing loss patients |
title_short | OTOF mutation screening in Japanese severe to profound recessive hearing loss patients |
title_sort | otof mutation screening in japanese severe to profound recessive hearing loss patients |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3849620/ https://www.ncbi.nlm.nih.gov/pubmed/24053799 http://dx.doi.org/10.1186/1471-2350-14-95 |
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