Estimation of Round-Trip Outer-Middle Ear Gain Using DPOAEs

Abstract

The reported research introduces a noninvasive approach to estimate round-trip outer-middle ear pressure gain using distortion product otoacoustic emissions (DPOAEs). Our ability to hear depends primarily on sound waves traveling through the outer and middle ear toward the inner ear. The role of the outer and middle ear in sound transmission is particularly important for otoacoustic emissions (OAEs), which are sound signals generated in a healthy cochlea and recorded by a sensitive microphone placed in the ear canal. OAEs are used to evaluate the health and function of the cochlea; however, they are also affected by outer and middle ear characteristics. To better assess cochlear health using OAEs, it is critical to quantify the effect of the outer and middle ear on sound transmission. DPOAEs were obtained in two conditions: (i) two-tone and (ii) three-tone. In the two-tone condition, DPOAEs were generated by presenting two primary tones in the ear canal. In the three-tone condition, DPOAEs at the same frequencies (as in the two-tone condition) were generated by the interaction of the lower frequency primary tone in the two-tone condition with a distortion product generated by the interaction of two other external tones. Considering how the primary tones and DPOAEs of the aforementioned conditions were affected by the forward and reverse outer-middle ear transmission, an estimate of the round-trip outer-middle ear pressure gain was obtained. The round-trip outer-middle ear gain estimates ranged from −39 to −17 dB between 1 and 3.3 kHz.

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Discovery of CDH23 as a Significant Contributor to Progressive Postlingual Sensorineural Hearing Loss in Koreans

by Bong Jik Kim, Ah Reum Kim, Chung Lee, So Young Kim, Nayoung K. D. Kim, Mun Young Chang, Jihye Rhee, Mi-Hyun Park, Soo Kyung Koo, Min Young Kim, Jin Hee Han, Seung-ha Oh, Woong-Yang Park, Byung Yoon Choi

CDH23 mutations have mostly been associated with prelingual severe-to-profound sensorineural hearing loss (SNHL) in either syndromic or nonsyndromic SNHL (DFNB12). Herein, we demonstrate the contribution of CDH23 mutations to postlingual nonsyndromic SNHL (NS-SNHL). We screened 32 Korean adult probands with postlingual NS-SNHL sporadically or in autosomal recessive fashion using targeted panel or whole exome sequencing. We identified four (12.5%, 4/32) potential postlingual DFNB12 families that segregated the recessive CDH23 variants, qualifying for our criteria along with rapidly progressive SNHL. Three of the four families carried one definite pathogenic CDH23 variant previously known as the prelingual DFNB12 variant in a trans configuration with rare CDH23 variants. To determine the contribution of rare CDH23 variants to the postlingual NS-SNHL, we checked the minor allele frequency (MAF) of CDH23 variants detected from our postlingual NS-SNHL cohort and prelingual NS-SNHL cohort, among the 2040 normal control chromosomes. The allele frequency of these CDH23 variants in our postlingual cohort was 12.5%, which was significantly higher than that of the 2040 control chromosomes (5.53%), confirming the contribution of these rare CDH23 variants to postlingual NS-SNHL. Furthermore, MAF of rare CDH23 variants from the postlingual NS-SNHL group was significantly higher than that from the prelingual NS-SNHL group. This study demonstrates an important contribution of CDH23 mutations to poslingual NS-SNHL and shows that the phenotypic spectrum of DFNB12 can be broadened even into the presbycusis, depending on the pathogenic potential of variants. We also propose that pathogenic potential of CDH23 variants and the clinical fate of DFNB12 may be predicted by MAF.

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Application of SNPscan in Genetic Screening for Common Hearing Loss Genes

by Zixuan Gao, Yu Lu, Jia Ke, Tao Li, Ping Hu, Yu Song, Chiyu Xu, Jie Wang, Jing Cheng, Lei Zhang, Hong Duan, Huijun Yuan, Furong Ma

The current study reports the successful application of a fast and efficient genetic screening system for common hearing loss (HL) genes based on SNPscan genotyping technology. Genetic analysis of 115 variants in common genes related to HL, GJB2, SLC26A4 and MT-RNR, was performed on 695 subjects with non-syndromic hearing loss (NSHL) from the Northern China. The results found that 38.7% (269/695) of cases carried bi-allelic pathogenic variants in GJB2 and SLC26A4 and 0.7% (5/695) of cases carried homoplasmic MT-RNR1 variants. The variant allele frequency of GJB2, SLC26A4 and MT-RNR1 was 19.8% (275/1390), 21.9% (304/1390), and 0.86% (6/695), respectively. This approach can explain ~40% of NSHL cases and thus is a useful tool for establishing primary molecular diagnosis of NSHL in clinical genetics.

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