ArticleHuman genetics2022
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.
Article in Human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07778641 (Genetic Study of OTOF- Related Auditory Neuropathy Spectrum Disorder), which is not on this map. Cited by 15 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Genetic Study of OTOF- Related Auditory Neuropathy Spectrum Disorder
Who cites it
15 citing papers in PubMed, 14 citations in OpenAlex.
- Identification of a novel isoform of Slc26a4 by single-cell RNA-sequencing of pendrin-expressing cells in the cochlea.Human genetics · 2026Article
- A multicenter study reveals a novel pathogenic splice-site founder variant in OTOF.Human genomics · 2025Article
- Cochlear gene therapy restores hearing and auditory processing in an atypical DFNB9 mouse model.Communications medicine · 2025Article
- Unraveling the complex genetic landscape of OTOF-related hearing loss: a deep dive into cryptic variants and haplotype phasing.Molecular medicine (Cambridge, Mass.) · 2025Article
- From Profiles to Structure in Cochlear Nerve: A Clinical Study of Auditory Neuropathy.Laryngoscope investigative otolaryngology · 2025Article
- Pathogenesis and research progress of OTOF gene related auditory neuropathy: a retrospective review.American journal of translational research · 2025Review
- The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.Human genetics · 2024Article
- AAV-Mediated Gene Therapy Restores Hearing in Patients with DFNB9 Deafness.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Clinical and genetic architecture of a large cohort with auditory neuropathy.Human genetics · 2024Article
- Engineering of the AAV-Compatible Hair Cell-Specific Small-Size Myo15 Promoter for Gene Therapy in the Inner Ear.Research (Washington, D.C.) · 2024Article
- [Study on gene therapy for DPOAE and ABR threshold changes in adultLin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2024Article
- RNA base editing therapy cures hearing loss induced by OTOF gene mutation.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- The natural history, clinical outcomes, and genotype-phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review.Human genetics · 2023Review
- Case report: Clinical and genetic analysis of a family with nonsyndromic auditory neuropathy.Frontiers in pediatrics · 2022Article
- Audiological Phenotype, Natural History, and Intervention in Chinese Patients With Auditory Neuropathy Caused by OTOF Variants.Ear and hearingArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 13 institutions in 3 countries.
Funding
Abstract
Pathogenic variations in the OTOF gene are a common cause of hearing loss. To refine the natural history and genotype-phenotype correlations of OTOF-related auditory neuropathy spectrum disorders (ANSD), audiograms and distortion product otoacoustic emissions (DPOAEs) were collected from a diverse cohort of individuals diagnosed with OTOF-related ANSD by comprehensive genetic testing and also reported in the literature. Comparative analysis was undertaken to define genotype-phenotype relationships using a Monte Carlo algorithm. 67 audiograms and 25 DPOAEs from 49 unique individuals positive for OTOF-related ANSD were collected. 51 unique OTOF pathogenic variants were identified of which 21 were missense and 30 were loss of function (LoF; nonsense, splice-site, copy number variants, and indels). There was a statistically significant difference in low, middle, and high frequency hearing thresholds between missense/missense and LoF/missense genotypes as compared to LoF/LoF genotypes (average hearing threshold for low, middle and high frequencies 70.9, 76.0, and 73.4 dB vs 88.5, 95.6, and 94.7 dB) via Tukey's test with age as a co-variate (P = 0.0180, 0.0327, and 0.0347, respectively). Hearing declined during adolescence with missense/missense and LoF/missense genotypes, with an annual mid-frequency threshold deterioration of 0.87 dB/year and 1.87 dB/year, respectively. 8.5% of frequencies measured via DPOAE were lost per year in individuals with serial tests. Audioprofiling of OTOF-related ANSD suggests significantly worse hearing with LoF/LoF genotypes. The unique pattern of variably progressive OTOF-related autosomal recessive ANSD may be amenable to gene therapy in selected clinical scenarios.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.