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OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients

The OTOF gene (Locus: DFNB9), encoding otoferlin, is reported to be one of the major causes of non-syndromic recessive sensorineural hearing loss, and is also reported to be the most common cause of non-syndromic recessive auditory neuropathy spectrum disorder (ANSD). In the present study, we perfor...

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Autores principales: Iwasa, Yoh-ichiro, Nishio, Shin-ya, Sugaya, Akiko, Kataoka, Yuko, Kanda, Yukihiko, Taniguchi, Mirei, Nagai, Kyoko, Naito, Yasushi, Ikezono, Tetsuo, Horie, Rie, Sakurai, Yuika, Matsuoka, Rina, Takeda, Hidehiko, Abe, Satoko, Kihara, Chiharu, Ishino, Takashi, Morita, Shin-ya, Iwasaki, Satoshi, Takahashi, Masahiro, Ito, Tsukasa, Arai, Yasuhiro, Usami, Shin-ichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6522017/
https://www.ncbi.nlm.nih.gov/pubmed/31095577
http://dx.doi.org/10.1371/journal.pone.0215932
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author Iwasa, Yoh-ichiro
Nishio, Shin-ya
Sugaya, Akiko
Kataoka, Yuko
Kanda, Yukihiko
Taniguchi, Mirei
Nagai, Kyoko
Naito, Yasushi
Ikezono, Tetsuo
Horie, Rie
Sakurai, Yuika
Matsuoka, Rina
Takeda, Hidehiko
Abe, Satoko
Kihara, Chiharu
Ishino, Takashi
Morita, Shin-ya
Iwasaki, Satoshi
Takahashi, Masahiro
Ito, Tsukasa
Arai, Yasuhiro
Usami, Shin-ichi
author_facet Iwasa, Yoh-ichiro
Nishio, Shin-ya
Sugaya, Akiko
Kataoka, Yuko
Kanda, Yukihiko
Taniguchi, Mirei
Nagai, Kyoko
Naito, Yasushi
Ikezono, Tetsuo
Horie, Rie
Sakurai, Yuika
Matsuoka, Rina
Takeda, Hidehiko
Abe, Satoko
Kihara, Chiharu
Ishino, Takashi
Morita, Shin-ya
Iwasaki, Satoshi
Takahashi, Masahiro
Ito, Tsukasa
Arai, Yasuhiro
Usami, Shin-ichi
author_sort Iwasa, Yoh-ichiro
collection PubMed
description The OTOF gene (Locus: DFNB9), encoding otoferlin, is reported to be one of the major causes of non-syndromic recessive sensorineural hearing loss, and is also reported to be the most common cause of non-syndromic recessive auditory neuropathy spectrum disorder (ANSD). In the present study, we performed OTOF mutation analysis using massively parallel DNA sequencing (MPS). The purpose of this study was to reveal the frequency and precise genetic and clinical background of OTOF-related hearing loss in a large hearing loss population. A total of 2,265 Japanese sensorineural hearing loss (SNHL) patients compatible with autosomal recessive inheritance (including sporadic cases) from 53 otorhinolaryngology departments nationwide participated in this study. The mutation analysis of 68 genes, including the OTOF gene, reported to cause non-syndromic hearing loss was performed using MPS. Thirty-nine out of the 2,265 patients (1.72%) carried homozygous or compound heterozygous mutations in the OTOF gene. It is assumed that the frequency of hearing loss associated with OTOF mutations is about 1.72% of autosomal recessive or sporadic SNHL cases. Hearing level information was available for 32 of 39 patients with biallelic OTOF mutations; 24 of them (75.0%) showed profound hearing loss, 7 (21.9%) showed severe hearing loss and 1 (3.1%) showed mild hearing loss. The hearing level of patients with biallelic OTOF mutations in this study was mostly severe to profound, which is consistent with the results of past reports. Eleven of the 39 patients with biallelic OTOF mutations had been diagnosed with ANSD. The genetic diagnosis of OTOF mutations has significant benefits in terms of clinical decision-making. Patients with OTOF mutations would be good candidates for cochlear implantation; therefore, the detection of OTOF mutations is quite beneficial for patients, especially for those with ANSD.
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spelling pubmed-65220172019-05-31 OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients Iwasa, Yoh-ichiro Nishio, Shin-ya Sugaya, Akiko Kataoka, Yuko Kanda, Yukihiko Taniguchi, Mirei Nagai, Kyoko Naito, Yasushi Ikezono, Tetsuo Horie, Rie Sakurai, Yuika Matsuoka, Rina Takeda, Hidehiko Abe, Satoko Kihara, Chiharu Ishino, Takashi Morita, Shin-ya Iwasaki, Satoshi Takahashi, Masahiro Ito, Tsukasa Arai, Yasuhiro Usami, Shin-ichi PLoS One Research Article The OTOF gene (Locus: DFNB9), encoding otoferlin, is reported to be one of the major causes of non-syndromic recessive sensorineural hearing loss, and is also reported to be the most common cause of non-syndromic recessive auditory neuropathy spectrum disorder (ANSD). In the present study, we performed OTOF mutation analysis using massively parallel DNA sequencing (MPS). The purpose of this study was to reveal the frequency and precise genetic and clinical background of OTOF-related hearing loss in a large hearing loss population. A total of 2,265 Japanese sensorineural hearing loss (SNHL) patients compatible with autosomal recessive inheritance (including sporadic cases) from 53 otorhinolaryngology departments nationwide participated in this study. The mutation analysis of 68 genes, including the OTOF gene, reported to cause non-syndromic hearing loss was performed using MPS. Thirty-nine out of the 2,265 patients (1.72%) carried homozygous or compound heterozygous mutations in the OTOF gene. It is assumed that the frequency of hearing loss associated with OTOF mutations is about 1.72% of autosomal recessive or sporadic SNHL cases. Hearing level information was available for 32 of 39 patients with biallelic OTOF mutations; 24 of them (75.0%) showed profound hearing loss, 7 (21.9%) showed severe hearing loss and 1 (3.1%) showed mild hearing loss. The hearing level of patients with biallelic OTOF mutations in this study was mostly severe to profound, which is consistent with the results of past reports. Eleven of the 39 patients with biallelic OTOF mutations had been diagnosed with ANSD. The genetic diagnosis of OTOF mutations has significant benefits in terms of clinical decision-making. Patients with OTOF mutations would be good candidates for cochlear implantation; therefore, the detection of OTOF mutations is quite beneficial for patients, especially for those with ANSD. Public Library of Science 2019-05-16 /pmc/articles/PMC6522017/ /pubmed/31095577 http://dx.doi.org/10.1371/journal.pone.0215932 Text en © 2019 Iwasa et al http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Iwasa, Yoh-ichiro
Nishio, Shin-ya
Sugaya, Akiko
Kataoka, Yuko
Kanda, Yukihiko
Taniguchi, Mirei
Nagai, Kyoko
Naito, Yasushi
Ikezono, Tetsuo
Horie, Rie
Sakurai, Yuika
Matsuoka, Rina
Takeda, Hidehiko
Abe, Satoko
Kihara, Chiharu
Ishino, Takashi
Morita, Shin-ya
Iwasaki, Satoshi
Takahashi, Masahiro
Ito, Tsukasa
Arai, Yasuhiro
Usami, Shin-ichi
OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients
title OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients
title_full OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients
title_fullStr OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients
title_full_unstemmed OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients
title_short OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients
title_sort otof mutation analysis with massively parallel dna sequencing in 2,265 japanese sensorineural hearing loss patients
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6522017/
https://www.ncbi.nlm.nih.gov/pubmed/31095577
http://dx.doi.org/10.1371/journal.pone.0215932
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