ArticleScientific reports2017
ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 2 of them syntheses that pooled it.
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Who cites it
34 citing papers in PubMed, 2 syntheses or guidelines pooled it, 62 citations in OpenAlex.
- Is auditory neuropathy an appropriate term? A systematic literature review on its aetiology and pathogenesis.Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale · 2021Pooled it
- Cochlear Implantation Outcomes in Post Synaptic Auditory Neuropathies: A Systematic Review and Narrative Synthesis.The journal of international advanced otology · 2020Pooled it
- Effects of electrical stimulation rate in genetically confirmed pre- and post-Synaptic auditory neuropathy in children.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 · 2026Trial
- ATP1A3-related neurological disorders: updated insights into clinical heterogeneity, molecular mechanisms and precision therapeutics.Neurogenetics · 2026Review
- Retrocochlear Auditory Dysfunctions (RADs) and Their Treatment: A Narrative Review.Audiology research · 2025Review
- Next-Generation Sequencing to Detect Mutations for the Molecular Diagnosis of Auditory Neuropathy Spectrum Disorder in a Chinese Series.The journal of international advanced otology · 2025Article
- Novel Variant of FDXR as a Molecular Etiology of Postlingual Post-synaptic Auditory Neuropathy Spectrum Disorder via Mitochondrial Dysfunction: Reiteration of the Correlation between Genotype and Cochlear Implantation Outcomes.Clinical and experimental otorhinolaryngology · 2024Article
- Article
- Auditory Neuropathy Spectrum Disorder Progressing with Motor and Sensory Neuropathy Caused by an ATP1A1 Variant.Internal medicine (Tokyo, Japan) · 2024Article
- Systematic Literature Review and Early Benefit of Cochlear Implantation in Two Pediatric Auditory Neuropathy Cases.Journal of personalized medicine · 2023Article
- Current Advances in Gene Therapies of Genetic Auditory Neuropathy Spectrum Disorder.Journal of clinical medicine · 2023Review
- Outcomes of cochlear implantation in 75 patients with auditory neuropathy.Frontiers in neuroscience · 2023Article
- Precision Medicine Approach to Cochlear Implantation.Clinical and experimental otorhinolaryngology · 2022Review
- Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.Scientific reports · 2022Article
- Full etiologic spectrum of pediatric severe to profound hearing loss of consecutive 119 cases.Scientific reports · 2022Article
- Molecular and clinical characteristics ofFrontiers in neurology · 2022Article
- Genetically altered animal models for ATP1A3-related disorders.Disease models & mechanisms · 2021Article
- A nonsenseProceedings of the National Academy of Sciences of the United States of America · 2021Article
- Auditory Neuropathy as the Initial Phenotype for Patients WithFrontiers in cell and developmental biology · 2021Article
- ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum.Frontiers in neurology · 2021Review
Corrections and comments
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Authors and funding
17 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The etiologies and prevalence of sporadic, postlingual-onset, progressive auditory neuropathy spectrum disorder (ANSD) have rarely been documented. Thus, we aimed to evaluate the prevalence and molecular etiologies of these cases. Three out of 106 sporadic progressive hearing losses turned out to manifest ANSD. Through whole exome sequencing and subsequent bioinformatics analysis, two out of the three were found to share a de novo variant, p.E818K of ATP1A3, which had been reported to cause exclusively CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) syndrome. However, hearing loss induced by CAPOS has never been characterized to date. Interestingly, the first proband did not manifest any features of CAPOS, except subclinical areflexia; however, the phenotypes of second proband was compatible with that of CAPOS, making this the first reported CAPOS allele in Koreans. This ANSD phenotype was compatible with known expression of ATP1A3 mainly in the synapse between afferent nerve and inner hair cells. Based on this, cochlear implantation (CI) was performed in the first proband, leading to remarkable benefits. Collectively, the de novo ATP1A3 variant can cause postlingual-onset auditory synaptopathy, making this gene a significant contributor to sporadic progressive ANSD and a biomarker ensuring favorable short-term CI outcomes.
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