ArticleAudiology & neuro-otology2016
Histopathology of the Human Inner Ear in the p.L114P COCH Mutation (DFNA9).
Article in Audiology & neuro-otology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Genotype-Phenotype Correlations of PathogenicBiomolecules · 2022Pooled it
- Histological and Gene Expression Analyses of the Arm and Finger Macroglands of Two Hyloxalus Frogs (Dendrobatidae).Molecular ecology · 2025Article
- Evaluating cochlear implant outcomes in DFNA9 subjects: a comprehensive study on cerebral white matter lesions and vestibular abnormalities.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2025Article
- A NovelLife (Basel, Switzerland) · 2023Article
- AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss.Human genetics · 2022Article
- Contemporary techniques in human otopathology and promise for the future.Laryngoscope investigative otolaryngology · 2020Review
- Cochlear histopathology in human genetic hearing loss: State of the science and future prospects.Hearing research · 2019Review
- The Price of Immune Responses and the Role of Vitamin D in the Inner Ear.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2019Review
- Focal Degeneration of Vestibular Neuroepithelium in the Cristae Ampullares of Three Human Subjects.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2018Article
- Preservation of Cells of the Organ of Corti and Innervating Dendritic Processes Following Cochlear Implantation in the Human: An Immunohistochemical Study.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2018Article
- Does Otovestibular Loss in the Autosomal Dominant Disorder DFNA9 Have an Impact of on Cognition? A Systematic Review.Frontiers in neuroscience · 2017Article
- Immunohistochemical techniques for the human inner ear.Histochemistry and cell biology · 2016Review
- Vestibular Implant Surgery: How to Deal With Obstructed Semicircular Canals-A Diagnostic and Surgical Guide.Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-facialeArticle
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7 authors at 1 institution in 1 country.
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Abstract
The histopathology of the inner ear in a patient with hearing loss caused by the p.L114P COCH mutation and its correlation with the clinical phenotype are presented. To date, 23 COCH mutations causative of DFNA9 autosomal dominant sensorineural hearing loss and vestibular disorder have been reported, and the histopathology of the human inner ear has been described in 4 of these. The p.L114P COCH mutation was first described in a Korean family. We have identified the same mutation in a family of non-Asian ancestry in the USA, and the temporal bone histopathology and clinical findings are presented herein. The histopathology found in the inner ear was similar to that shown in the 4 other COCH mutations and included degeneration of the spiral ligament with deposition of an eosinophilic acellular material, which was also found in the distal osseous spiral lamina, at the base of the spiral limbus, and in mesenchymal tissue at the base of the vestibular neuroepithelium. This is the first description of human otopathology of the COCH p.L114P mutation. In addition, it is the only case with otopathology characterization in an individual with any COCH mutation and residual hearing, thus allowing assessment of primary histopathological events in DFNA9, before progression to more profound hearing loss. A quantitative cytologic analysis of atrophy in this specimen and immunostaining using anti-neurofilament and anti-myelin protein zero antibodies confirmed that the principal histopathologic correlate of hearing loss was degeneration of the dendritic fibers of spiral ganglion cells in the osseous spiral lamina. The implications for cochlear implantation in this disorder are discussed.
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