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

Yoh ichiro Iwasa, Shin ya Nishio, Akiko Sugaya, Yuko Kataoka, Yukihiko Kanda, Mirei Taniguchi, Kyoko Nagai, Yasushi Naito, Tetsuo Ikezono, Rie Horie, Yuika Sakurai, Rina Matsuoka, Hidehiko Takeda, Satoko Abe, Chiharu Kihara, Takashi Ishino, Shin ya Morita, Satoshi Iwasaki, Masahiro Takahashi, Tsukasa ItoYasuhiro Arai, Shin ichi Usami

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

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.

Original languageEnglish
Article numbere0215932
JournalPloS one
Volume14
Issue number5
DOIs
Publication statusPublished - May 1 2019

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High-Throughput Nucleotide Sequencing
Sensorineural Hearing Loss
Audition
hearing
DNA Sequence Analysis
sequence analysis
Hearing Loss
mutation
Mutation
DNA
peripheral nervous system diseases
Genes
Hearing
genes
Cochlear Implantation
Otolaryngology
national surveys
decision making
inheritance (genetics)

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Agricultural and Biological Sciences(all)

Cite this

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.

In: PloS one, Vol. 14, No. 5, e0215932, 01.05.2019.

Research output: Contribution to journalArticle

Iwasa, YI, Nishio, SY, Sugaya, A, Kataoka, Y, Kanda, Y, Taniguchi, M, Nagai, K, Naito, Y, Ikezono, T, Horie, R, Sakurai, Y, Matsuoka, R, Takeda, H, Abe, S, Kihara, C, Ishino, T, Morita, SY, Iwasaki, S, Takahashi, M, Ito, T, Arai, Y & Usami, SI 2019, 'OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients', PloS one, vol. 14, no. 5, e0215932. https://doi.org/10.1371/journal.pone.0215932
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. In: PloS one. 2019 ; Vol. 14, No. 5.
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abstract = "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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AU - Iwasa, Yoh ichiro

AU - Nishio, Shin ya

AU - Sugaya, Akiko

AU - Kataoka, Yuko

AU - Kanda, Yukihiko

AU - Taniguchi, Mirei

AU - Nagai, Kyoko

AU - Naito, Yasushi

AU - Ikezono, Tetsuo

AU - Horie, Rie

AU - Sakurai, Yuika

AU - Matsuoka, Rina

AU - Takeda, Hidehiko

AU - Abe, Satoko

AU - Kihara, Chiharu

AU - Ishino, Takashi

AU - Morita, Shin ya

AU - Iwasaki, Satoshi

AU - Takahashi, Masahiro

AU - Ito, Tsukasa

AU - Arai, Yasuhiro

AU - Usami, Shin ichi

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