ReviewHuman genetics2023
The natural history, clinical outcomes, and genotype-phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review.
Review in Human genetics, 2023. 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 20 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
20 citing papers in PubMed.
- Trial
- AAV gene therapy for autosomal recessive deafness 9: a single-arm trial.Nature medicine · 2025Trial
- Lunsotogene Parvec: First Approval.Drugs · 2026Review
- The Genetic Causes of Auditory Neuropathy: A Systematic Review.Journal of clinical medicine · 2026Review
- Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan.Scientific reports · 2026Article
- A Novel Pathogenic Haplotype inBalkan medical journal · 2026Article
- Genetic and Environmental Factors Shaping Hearing Loss: Xenobiotics, Mechanisms and Translational Perspectives.Journal of xenobiotics · 2026Review
- CRISPR-free RNA base editing mediated PTC-readthrough restores hearing in mice with Otof nonsense mutation.Nature communications · 2025Article
- Structure and function of otoferlin, a synaptic protein of sensory hair cells essential for hearing.Science advances · 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
- [The natural history of the relationship betweenLin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2025Review
- Article
- Pathogenesis and research progress of OTOF gene related auditory neuropathy: a retrospective review.American journal of translational research · 2025Review
- AAV-regulatedMolecular therapy. Nucleic acids · 2024Article
- Heterogeneous Group of Genetically Determined Auditory Neuropathy Spectrum Disorders.International journal of molecular sciences · 2024Article
- Gene therapy for hereditary deafness.Nature medicine · 2024Article
- Otoferlin gene therapy restores hearing in deaf children.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- AAV-Mediated Gene Therapy Restores Hearing in Patients with DFNB9 Deafness.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Ototoxicity: a high risk to auditory function that needs to be monitored in drug development.Frontiers in molecular neuroscience · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
Congenital hearing loss affects one in 500 newborns. Sequence variations in OTOF, which encodes the calcium-binding protein otoferlin, are responsible for 1-8% of congenital, nonsyndromic hearing loss and are the leading cause of auditory neuropathy spectrum disorders. The natural history of otoferlin-related hearing loss, the relationship between OTOF genotype and hearing loss phenotype, and the outcomes of clinical practices in patients with this genetic disorder are incompletely understood because most analyses have reported on small numbers of cases with homogeneous OTOF genotypes. Here, we present the first systematic, quantitative literature review of otoferlin-related hearing loss, which analyzes patient-specific data from 422 individuals across 61 publications. While most patients display a typical phenotype of severe-to-profound hearing loss with prelingual onset, 10-15% of patients display atypical phenotypes, including mild-to-moderate, progressive, and temperature-sensitive hearing loss. Patients' phenotypic presentations appear to depend on their specific genotypes. For example, non-truncating variants located in and immediately downstream of the C
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