Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment

Beelen, E. van; Oonk, Anne M.M.; Leijendeckers, Joop M.; Hoefsloot, Elisabeth H.; Pennings, Ronald J.E.; Feenstra, Ilse; Dieker, Hendrik-Jan; Huygen, P.L.M.; Snik, A.F.M.; Kremer, Hannie; Kunst, Henricus P. M.

doi:10.1097/aud.0000000000000217

Cited by 18 publications

(13 citation statements)

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“…Following Schuknecht and Gacek (1993) and Ohlemiller (2004), and based on the outcomes of the psychophysical tests and the present knowledge of the pathology on a cellular level (Nishio et al, 2015), Usher syndrome type 2a, DFNA22, DFNA10 and HDR syndrome have been categorized as ‘sensory’ types of cochlear hearing loss (Leijendeckers et al, 2009; Oonk et al, 2013; van Beelen et al, 2016, 2014) where the hair cells are affected by the specific genetic mutations.…”

Section: Discussionmentioning

confidence: 99%

“…hair cells responsible for mechanotransduction (Gillespie and Müller, 2009; Peng et al, 2011), the stria vascularis and thus the endocochlaer potential (Lang et al, 2010), the tectorial membrane and the mechanical properties of the organ of Corti (Masaki et al, 2009). Over the last decade, we published the results on psychophysical and speech-in-noise tests obtained in nine different groups of hearing-impaired patients with a certain type of genetic hearing impairment (De Leenheer et al, 2004; Leijendeckers et al, 2009; Oonk et al, 2014, 2013; Plantinga et al, 2007; van Beelen et al, 2016, 2014, 2012; Weegerink et al, 2011) (see also Table 1). The present study uses the data from these publications to test our hypothesis.…”

Section: Introductionmentioning

confidence: 99%

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Genetic hearing impairment affects cochlear processing and, consequently, speech recognition in noise

Lanting¹,

Snik²,

Leijendeckers³

et al. 2020

Preprint

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The relation between speech recognition and hereditary hearing loss is not straightforward. Impaired cochlear processing of sound might be determined by underlying genetic defects. Data obtained in nine groups of patients with a specific type of genetic hearing loss were evaluated. For each group, the affected cochlear structure, or site-of-lesion, was determined based on previously published animal studies. Retrospectively obtained speech recognition scores in noise were related to several aspects of supra-threshold cochlear processing, as assessed by psychophysical measurements. The differences in speech perception in noise between these patient groups could be explained by these factors, and partially by the hypothesized affected structure of the cochlea, suggesting that speech recognition in noise was associated with genetics-related malfunctioning of the cochlea.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Genetic hearing impairment affects cochlear processing and, consequently, speech recognition in noise

Lanting¹,

Snik²,

Leijendeckers³

et al. 2020

Preprint

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“…Of these genes, there are seven loci known to cause MFSNHL. Some mutations result in hearing loss pre-lingually (11)(12)(13)(14)(15)(16)(17), while others affect hearing loss post-lingually that can begin as late as the third decade of life (18)(19)(20)(21). Forms of autosomal dominant MFSNHL that began prelingually have been demonstrated to be stable and not progressive over time.…”

Section: Discussionmentioning

confidence: 99%

Characteristics of Mid-Frequency Sensorineural Hearing Loss Progression

Birkenbeuel¹,

Abouzari²,

Goshtasbi³

et al. 2019

Otology &Amp; Neurotology

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Objectives: To characterize the progression of mid-frequency sensorineural hearing loss (MFSNHL) over time. Methods: A retrospective chart review spanning 2012 to 2017 was performed at a tertiary care audiology and neurotology center. Our cohort included 37 patients met the criteria for MFSNHL also known as ''cookie bite hearing loss.'' It was defined as having a 1, 2, and 4 kHz average pure tone audiometry greater than 10 dB in intensity compared with the average threshold at 500 Hz and 8 kHz. Results: Average age at initial presentation was 11.8 years (range, 8 mo to 70 yr). Across all individuals, the average mid-frequency threshold was 47 dB, compared with 27 dB at 500 Hz and 8 kHz. Twenty-three patients (62%) had multiple audiograms with 4-year median follow up time. Average values across all frequencies (0.5, 1, 2, 4, 8 kHz) in the initial audiogram was 37 dB, compared with an average of 39 dB demonstrated on final audiogram. Of those with serial audiograms, only five patients demonstrated threshold changes of 10 dB or more. Of these five patients, only one was found to have clinical worsening of MFSNHL. Conclusions: MFSNHL is an uncommon audiometric finding with unspecified long-term outcomes. We demonstrated that most patients (96%) with MFSNHL do not experience clinical worsening of their hearing threshold over almost 4 years of follow up. Future prospective studies aimed at collecting longer-term data are warranted to further elucidate the long-term trajectory of MFSNHL patients.

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“…Thus, there may be few unknown causative genes for MFSNHL with high prevalence, or many other causative genes with low prevalence. Other than TECTA , three genes, COL11A2 (DFNA13, DFNB53) [ 35 , 36 ], EYA4 (DFNA10) [ 37 ], and CCDC50 (DFNA44) [ 38 ], are reported to cause MFSNHL. The frequency of mutations in these genes and other unknown causative genes could be determined by comprehensive genetic testing using next generation sequencing in patients with MFSNHL in future investigations.…”

Section: Discussionmentioning

confidence: 99%

Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss

Yamamoto

Mutai

Namba

et al. 2017

Orphanet J Rare Dis

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BackgroundTo date, 102 genes have been reported as responsible for non-syndromic hearing loss, some of which are associated with specific audiogram features. Four genes have been reported as causative for mid-frequency sensorineural hearing loss (MFSNHL), among which TECTA is the most frequently reported; however, the prevalence of TECTA mutations is unknown. To elucidate the prevalence of TECTA mutation in MFSNHL and clarify genotype-phenotype correlations, we analyzed the genetic and clinical features of patients with MFSNHL.MethodsSubjects with bilateral non-syndromic hearing loss were prescreened for GJB2 and m.1555A > G and m.3243A > G mitochondrial DNA mutations, and patients with inner ear malformations were excluded. We selected MFSNHL patients whose audiograms met the U-shaped criterion proposed by the GENDEAF study group, along with those with shallow U-shaped audiograms, for TECTA analysis. All TECTA exons were analyzed by Sanger sequencing. Novel missense variants were classified as possibly pathogenic, non-pathogenic, and variants of uncertain significance, based on genetic data. To evaluate novel possibly pathogenic variants, we predicted changes in protein structure by molecular modeling.ResultsPathogenic and possibly pathogenic variants of TECTA were found in 4 (6.0%) of 67 patients with MFSNHL. In patients with U-shaped audiograms, none (0%) of 21 had pathogenic or possibly pathogenic variants. In patients with shallow U-shaped audiograms, four (8.7%) of 46 had pathogenic or possibly pathogenic variants. Two novel possibly pathogenic variants were identified and two previously reported mutations were considered as variant of unknown significance. The clinical features of patients with pathogenic and possibly pathogenic variants were consistent with those in previous studies. Pathogenic or possibly pathogenic variants were identified in 3 of 23 families (13.0%) which have the family histories compatible with autosomal dominant and 1 of 44 families (2.3%) which have the family histories compatible with sporadic or autosomal recessive.Conclusions TECTA mutations were identified in 6.0% of MFSNHL. These mutations were more frequent in patients with shallow U-shaped audiograms than those with U-shaped audiograms, and in families which have the family histories compatible with autosomal dominant than those with the family histories compatible with sporadic or autosomal recessive.Electronic supplementary materialThe online version of this article (10.1186/s13023-017-0708-z) contains supplementary material, which is available to authorized users.

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Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment

Cited by 18 publications

References 23 publications

Genetic hearing impairment affects cochlear processing and, consequently, speech recognition in noise

Genetic hearing impairment affects cochlear processing and, consequently, speech recognition in noise

Characteristics of Mid-Frequency Sensorineural Hearing Loss Progression

Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss

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