Dataset Information

Frequency and clinical features of hearing loss caused by STRC deletions.

ABSTRACT: Sensorineural hearing loss is a common deficit and mainly occurs due to genetic factors. Recently, copy number variants (CNVs) in the STRC gene have also been recognized as a major cause of genetic hearing loss. We investigated the frequency of STRC deletions in the Japanese population and the characteristics of associated hearing loss. For CNV analysis, we employed a specialized method of Ion AmpliSeq^TM sequencing, and confirmed the CNV results via custom array comparative genomic hybridization. We identified 17 probands with STRC homozygous deletions. The prevalence of STRC homozygous deletions was 1.7% in the hearing loss population overall, and 4.3% among mild-to-moderate hearing loss patients. A 2.63% carrier deletion rate was identified in both the hearing loss and the control population with normal hearing. In conclusion, our results show that STRC deletions are the second most common cause of mild-to-moderate hearing loss after the GJB2 gene, which accounts for the majority of genetic hearing loss. The phenotype of hearing loss is congenital and appears to be moderate, and is most likely to be stable without deterioration even after the age of 50. The present study highlights the importance of the STRC gene as a major cause of mild-to-moderate hearing loss.

SUBMITTER: Yokota Y

PROVIDER: S-EPMC6416315 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Frequency and clinical features of hearing loss caused by STRC deletions.

Yokota Yoh Y Moteki Hideaki H Nishio Shin-Ya SY Yamaguchi Tomomi T Wakui Keiko K Kobayashi Yumiko Y Ohyama Kenji K Miyazaki Hiromitsu H Matsuoka Rina R Abe Satoko S Kumakawa Kozo K Takahashi Masahiro M Sakaguchi Hirofumi H Uehara Natsumi N Ishino Takashi T Kosho Tomoki T Fukushima Yoshimitsu Y Usami Shin-Ichi SI

Scientific reports 20190313 1

Sensorineural hearing loss is a common deficit and mainly occurs due to genetic factors. Recently, copy number variants (CNVs) in the STRC gene have also been recognized as a major cause of genetic hearing loss. We investigated the frequency of STRC deletions in the Japanese population and the characteristics of associated hearing loss. For CNV analysis, we employed a specialized method of Ion AmpliSeq<sup>TM</sup> sequencing, and confirmed the CNV results via custom array comparative genomic hy ...[more]

PMID: 30867468

Similar Datasets

Project description:The authors have demonstrated that the limited bandwidth associated with conventional hearing aid amplification prevents useful high-frequency speech information from being transmitted. The purpose of this study was to examine the efficacy of two popular frequency-lowering algorithms and one novel algorithm (spectral envelope decimation) in adults with mild to moderate sensorineural hearing loss and in normal-hearing controls.Participants listened monaurally through headphones to recordings of nine fricatives and affricates spoken by three women in a vowel-consonant context. Stimuli were mixed with speech-shaped noise at 10 dB SNR and recorded through a Widex Inteo IN-9 and a Phonak Naída UP V behind-the-ear (BTE) hearing aid. Frequency transposition (FT) is used in the Inteo and nonlinear frequency compression (NFC) used in the Naída. Both devices were programmed to lower frequencies above 4 kHz, but neither device could lower frequencies above 6 to 7 kHz. Each device was tested under four conditions: frequency lowering deactivated (FT-off and NFC-off), frequency lowering activated (FT and NFC), wideband (WB), and a fourth condition unique to each hearing aid. The WB condition was constructed by mixing recordings from the first condition with high-pass filtered versions of the source stimuli. For the Inteo, the fourth condition consisted of recordings made with the same settings as the first, but with the noise-reduction feature activated (FT-off). For the Naída, the fourth condition was the same as the first condition except that source stimuli were preprocessed by a novel frequency compression algorithm, spectral envelope decimation (SED), designed in MATLAB, which allowed for a more complete lowering of the 4 to 10 kHz input band. A follow-up experiment with NFC used Phonak's Naída SP V BTE, which could also lower a greater range of input frequencies.For normal-hearing and hearing-impaired listeners, performance with FT was significantly worse compared with that in the other conditions. Consistent with previous findings, performance for the hearing-impaired listeners in the WB condition was significantly better than in the FT-off condition. In addition, performance in the SED and WB conditions were both significantly better than in the NFC-off condition and the NFC condition with 6 kHz input bandwidth. There were no significant differences between SED and WB, indicating that improvements in fricative identification obtained by increasing bandwidth can also be obtained using this form of frequency compression. Significant differences between most conditions could be largely attributed to an increase or decrease in confusions for the phonemes /s/ and /z/. In the follow-up experiment, performance in the NFC condition with 10 kHz input bandwidth was significantly better than NFC-off, replicating the results obtained with SED. Furthermore, listeners who performed poorly with NFC-off tended to show the most improvement with NFC.Improvements in the identification of stimuli chosen to be sensitive to the effects of frequency lowering have been demonstrated using two forms of frequency compression (NFC and SED) in individuals with mild to moderate high-frequency sensorineural hearing loss. However, negative results caution against using FT for this population. Results also indicate that the advantage of an extended bandwidth as reported here and elsewhere applies to the input bandwidth for frequency compression (NFC/SED) when the start frequency is ?4 kHz.

Dataset Information

Frequency and clinical features of hearing loss caused by STRC deletions.

Publications

Frequency and clinical features of hearing loss caused by STRC deletions.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets