Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss

Gan, Nina Sara; Oziębło, Dominika; Skarżyńśki, Henryk; Ołdak, Monika

doi:10.1159/000529464

Cited by 4 publications

(5 citation statements)

References 106 publications

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“…Low-frequency sensorineural hearing loss, non-syndromic 21 These patients' speech is described as normal.…”

Section: Discussionmentioning

confidence: 94%

“…The differential etiology of Erastus' reverse-slope hearing problem may well have been incomplete partition type III, originally termed "X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher". 19 Other putative etiologies (Table I) [20][21][22][23] of bilateral progressive childhood reverse slope hearing loss are inconsistent with the data. An argument against incomplete partition type III being the etiologic diagnosis for Deaf Smith may be the absence of a report of him having a problem with balance.…”

Section: Features Of the Listening-speaking Status Of Erastus Smithmentioning

confidence: 99%

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The Hearing of Erastus “Deaf” Smith, Hero of the Texas Revolution

Todd,

Beck

2024

The Laryngoscope

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ObjectivesTo describe the speech and hearing abilities of Erastus “Deaf” Smith, the first Texas Ranger, and speculate on the etiology of his hearing loss.MethodsReview of credible historical data of what Erastus could and could not hear, descriptions of his voice, and loudness tolerance. Modern analysis of acoustical physics data generated by 0.69‐inch diameter non‐spinning musket balls.ResultsThe onset of Erastus' bilateral hearing loss was early childhood. He could hear some. He was intolerant of very loud sounds. His speech was “weak”, “squeaky” and high‐pitched. He did not use manual communication. He could not hear musket balls passing near his head. The frequency of sound generated by flying 0.69‐inch diameter musket balls has been determined as predominantly in the range of 2000–2500 Hz. In contrast to most bilateral childhood sensorineural hearing losses that are worse in high and mid frequencies, Erastus' hearing loss was worse in the low and mid frequencies – preserving at least some high‐frequency hearing.ConclusionErastus' reverse‐slope hearing problem may well have been attributable to incomplete partition type III. If you can't hear it, you can't speak it.Level of EvidenceNA Laryngoscope, 2024

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“…Low-frequency sensorineural hearing loss, non-syndromic 21 These patients' speech is described as normal.…”

Section: Discussionmentioning

confidence: 94%

Section: Features Of the Listening-speaking Status Of Erastus Smithmentioning

confidence: 99%

The Hearing of Erastus “Deaf” Smith, Hero of the Texas Revolution

Todd,

Beck

2024

The Laryngoscope

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“…TNC , a gene placed on chromosome 9q33.1, produces an 8.5-kb transcript translated into an extracellular matrix glycoprotein TNC , [15] and the TNC protein is a multifunctional hexameric glycoprotein that plays a regulatory role during development, tissue remodeling, and disease. [16] In the case of hearing loss, TNC has recently been found to be causative for DFNA56 (OMIM: 615629), and TNC expresses under the basilar membrane in the cochlea, and is important for auditory development and self-recovery from injuries.…”

Section: Discussionmentioning

confidence: 99%

Case report of a novel mutation in the TNC gene in Chinese patients with nonsyndromic hearing loss

Li,

Chen

et al. 2024

Medicine

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Rationale: Hereditary hearing loss is known to exhibit a significant degree of genetic heterogeneity. Herein, we present a case report of a novel mutation in the tenascin-C (TNC) gene in Chinese patients with nonsyndromic hearing loss (NSHL). Patient concerns: This includes a young deaf couple and their 2-year-old baby. Diagnoses: Based on the clinical information, hearing test, metagenomic next-generation sequencing (mNGS), Sanger sequencing, protein function and structure analysis, and model prediction, in our case, the study results revealed 2 heterozygous mutations in the TNC gene (c.2852C>T, p.Thr951Ile) and the TBC1 domain family member 24 (TBC1D24) gene (c.1570C>T, p.Arg524Trp). These mutations may be responsible for the hearing loss observed in this family. Notably, the heterozygous mutations in the TNC gene (c.2852C>T, p.Thr951Ile) have not been previously reported in the literature. Interventions: Avoid taking drugs that can cause deafness, wearing hearing AIDS, and cochlear implants. Outcomes: Regular follow-up of family members is ongoing. Lessons: The genetic diagnosis of NSHL holds significant importance as it helps in making informed treatment decisions, providing prognostic information, and offering genetic counseling for the patient’s family.

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“…Another gene, the MYO7A gene, codes an unconventional myosin (myosin VIIA), which is expressed within the SC of HC both in the cochlea and vestibular system [88].…”

Section: The Genetics Of Hearing Loss and Tinnitus May Include A Role...mentioning

confidence: 99%

The Relevance of Autophagy within Inner Ear in Baseline Conditions and Tinnitus-Related Syndromes

Lazzeri,

Biagioni,

Ferrucci

et al. 2023

IJMS

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Tinnitus is the perception of noise in the absence of acoustic stimulation (phantom noise). In most patients suffering from chronic peripheral tinnitus, an alteration of outer hair cells (OHC) starting from the stereocilia (SC) occurs. This is common following ototoxic drugs, sound-induced ototoxicity, and acoustic degeneration. In all these conditions, altered coupling between the tectorial membrane (TM) and OHC SC is described. The present review analyzes the complex interactions involving OHC and TM. These need to be clarified to understand which mechanisms may underlie the onset of tinnitus and why the neuropathology of chronic degenerative tinnitus is similar, independent of early triggers. In fact, the fine neuropathology of tinnitus features altered mechanisms of mechanic-electrical transduction (MET) at the level of OHC SC. The appropriate coupling between OHC SC and TM strongly depends on autophagy. The involvement of autophagy may encompass degenerative and genetic tinnitus, as well as ototoxic drugs and acoustic trauma. Defective autophagy explains mitochondrial alterations and altered protein handling within OHC and TM. This is relevant for developing novel treatments that stimulate autophagy without carrying the burden of severe side effects. Specific phytochemicals, such as curcumin and berberin, acting as autophagy activators, may mitigate the neuropathology of tinnitus.

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Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss

Cited by 4 publications

References 106 publications

The Hearing of Erastus “Deaf” Smith, Hero of the Texas Revolution

The Hearing of Erastus “Deaf” Smith, Hero of the Texas Revolution

Case report of a novel mutation in the TNC gene in Chinese patients with nonsyndromic hearing loss

The Relevance of Autophagy within Inner Ear in Baseline Conditions and Tinnitus-Related Syndromes

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