Affinage

OTOF

Otoferlin · UniProt Q9HC10

Length
1997 aa
Mass
226.8 kDa
Annotated
2026-06-10
92 papers in source corpus 14 papers cited in narrative 15 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

Otoferlin (OTOF) is a multi-C2-domain, Ca2+-sensing presynaptic protein of cochlear inner hair cells (IHCs) that mediates Ca2+-dependent synaptic vesicle tethering, docking, and fusion at the IHC ribbon synapse (PMID:10192385, PMID:36383253). Originally identified as a fer-1-family protein with multiple C2 domains and a single C-terminal transmembrane anchor, its hair-cell expression and homology to vesicle-fusion proteins placed it in the synaptic vesicle fusion machinery (PMID:10192385), and genetic analysis established that the long six-C2-domain isoforms, not the short three-C2-domain isoforms, are required for inner ear function (PMID:10903124). Cryo-EM of Ca2+-bound otoferlin shows that membrane binding is mediated by the C2B and C2G domains with repositioning of the C2F and C2G domains, while graded disruption of Ca2+-binding by the C2D domain progressively degrades synaptic sound encoding and eliminates the Ca2+-cooperativity of vesicle exocytosis, establishing otoferlin as a multi-ion Ca2+ sensor for fusion. Loss of otoferlin in mice abolishes IHC neurotransmitter release and triggers a developmental and progressive degenerative cascade: delayed synaptic pruning and progressive loss of IHC synapses and inner hair cells (PMID:34335185), together with selective apoptosis of type I spiral ganglion neurons beginning before hearing onset (PMID:36914046). In humans, OTOF mutations cause profound prelingual deafness (DFNB9/auditory neuropathy), demonstrated by a knock-in of the E1804del variant that disrupts otoferlin distribution and IHC synaptic transmission (PMID:40506483), and recurrent pathogenic alleles act through splicing defects (PMID:41053850, PMID:36988134, PMID:33397372). Restoration of otoferlin in IHCs by dual-AAV reconstitution of the oversized coding sequence rescues exocytosis and durably reverses deafness, defining the protein's cell-autonomous presynaptic role (PMID:30782832, PMID:36383253, PMID:38404504). Separately, OTOF has been reported as a type I interferon-induced restriction factor inhibiting HIV-1 entry in macrophages and dendritic cells (PMID:35862790).

Mechanistic history

Synthesis pass · year-by-year structured walk · 12 steps
  1. 1999 Medium

    Established the molecular identity of otoferlin and its candidate role, answering what kind of protein OTOF encodes and where it acts.

    Evidence Candidate gene cloning, sequence analysis, and northern blot expression in inner ear hair cells

    PMID:10192385

    Open questions at the time
    • No direct functional reconstitution of membrane fusion
    • C2-domain Ca2+-binding not biochemically tested
    • Subcellular synaptic localization not resolved
  2. 2000 Medium

    Resolved which otoferlin isoforms matter for hearing, showing the long six-C2-domain isoforms are functionally required.

    Evidence cDNA cloning, exon-intron mapping, and segregating intron-8 splice mutation in a DFNB9 family

    PMID:10903124

    Open questions at the time
    • Functional role of short isoforms unresolved
    • Mechanistic contribution of the extra C2 domains not defined
  3. 2002 Low

    First linked specific C2-domain missense variants to deafness, implicating C2C in Ca2+-binding function.

    Evidence SSCP, sequencing, and computational structural modeling of P490Q and I515T

    PMID:12127154

    Open questions at the time
    • Inference rests on computer modeling without in vitro Ca2+-binding validation
    • No cellular or animal confirmation of the effect
  4. 2007 Medium

    Defined the C2B domain as critical for protein stability and showed otoferlin is dispensable for vestibular function, narrowing its functional requirement to the auditory periphery.

    Evidence ENU-induced C2B missense mouse with immunohistochemistry, ABR, and VsEP recordings

    PMID:17967520

    Open questions at the time
    • Mechanism of C2B-dependent stabilization unknown
    • Why vestibular hair cells tolerate loss not explained
  5. 2019 High

    Demonstrated that restoring otoferlin in mature cochlea reverses deafness, proving its loss is the causal and cell-autonomous defect and establishing therapeutic feasibility.

    Evidence Dual-AAV split-cDNA recombination delivery in Otof-/- mice with immunofluorescence and ABR

    PMID:30782832

    Open questions at the time
    • Did not directly measure exocytosis restoration
    • Durability and degenerative reversal across older ages not fully addressed
  6. 2021 Medium

    Identified a developmental role for otoferlin in synaptic maturation and a progressive degenerative cascade, distinguishing its acute transmission role from long-term tissue maintenance.

    Evidence Otof-/- mouse synapse counting, immunolabeling, and DPOAE over 48 weeks

    PMID:34335185

    Open questions at the time
    • Whether pruning defect is cell-autonomous to IHCs or activity-dependent unclear
    • Molecular link between absent release and IHC loss undefined
  7. 2021 Medium

    Confirmed splicing-defect mechanisms for intronic OTOF alleles, expanding the molecular spectrum of pathogenic variation beyond missense.

    Evidence Minigene assay and RT-PCR for c.3289-1G>T (exon 27) and mRNA analysis for c.2406+4A>G (exon 20 skipping)

    PMID:33397372 PMID:36988134

    Open questions at the time
    • Protein-level consequences of truncated products not characterized
    • Quantitative effect on residual function not measured
  8. 2022 High

    Provided trans-splicing dual-AAV evidence that human otoferlin restores synaptic vesicle release and durably reverses bilateral deafness, directly tying rescue to exocytosis recovery.

    Evidence Dual-AAV trans-splicing in Otof-/- mice with membrane capacitance and ABR over 6 months

    PMID:36383253

    Open questions at the time
    • Long-term durability beyond 6 months not assessed
    • Whether degenerative SGN/IHC loss is prevented not addressed
  9. 2022 Medium

    Reported an unexpected immune function for OTOF as an interferon-induced HIV-1 restriction factor, raising a distinct role outside the cochlea.

    Evidence siRNA knockdown and overexpression with HIV-1 infection assays in macrophages, DCs, and CD4+ T cells

    PMID:35862790

    Open questions at the time
    • Molecular mechanism of entry inhibition undefined
    • Relationship to the cochlear C2-domain fusion function unknown
    • No structural or biochemical link to the synaptic role
  10. 2024 Medium

    Showed hair-cell-specific promoter-driven AAV restores otoferlin and IHC exocytosis, confirming the cell type in which otoferlin function must be reconstituted.

    Evidence AAV-Myo15 promoter delivery in Otof-/- mice with membrane capacitance and ABR

    PMID:38404504

    Open questions at the time
    • Comparative efficacy versus broad promoters not resolved
    • Effect on downstream neuronal degeneration not measured
  11. 2025 High

    Defined the structural and Ca2+-sensing mechanism, showing membrane binding via C2B/C2G and C2D-mediated multi-ion Ca2+-cooperativity of vesicle fusion.

    Evidence Cryo-EM of Ca2+-bound otoferlin, MD simulation, C2D Ca2+-binding mutant mice, and in vivo electrophysiology with SV exocytosis cooperativity assay (preprint)

    Open questions at the time
    • Preprint, not peer reviewed
    • Identity of in vivo membrane and SNARE partners during fusion not resolved
    • How structural rearrangement couples to docking versus fusion steps not fully defined
  12. 2025 Medium

    Modeled a recurrent human DFNB9 variant in vivo, linking abnormal otoferlin distribution to failed IHC synaptic transmission and demonstrating rescue.

    Evidence E1799del (human E1804del) knock-in mouse with localization, IHC synaptic transmission assay, ABR, and AAV rescue; plus minigene confirmation of c.898-18G>A exon-10 skipping

    PMID:40506483 PMID:41053850

    Open questions at the time
    • How mislocalization mechanistically impairs release not dissected
    • Generalizability of rescue across variant classes unclear

Open questions

Synthesis pass · forward-looking unresolved questions
  • How otoferlin's Ca2+-driven structural cycle coordinates vesicle tethering, docking, and fusion at the molecular level, and how its cochlear synaptic role relates to its reported interferon-induced antiviral activity, remain unresolved.
  • No defined molecular fusion partners at the IHC ribbon synapse in the corpus
  • Mechanism of HIV-1 entry restriction by OTOF undefined
  • Whether the two functions share a common biochemical basis unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0008289 lipid binding 1 GO:0140299 molecular sensor activity 1
Localization
GO:0005886 plasma membrane 2 GO:0031410 cytoplasmic vesicle 1
Pathway
R-HSA-112316 Neuronal System 2 R-HSA-1266738 Developmental Biology 1 R-HSA-1643685 Disease 1

Evidence

Reading pass · 15 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1999 OTOF encodes otoferlin, a predicted cytosolic protein with three C2 domains and a single carboxy-terminal transmembrane domain, belonging to the fer-1 family. Its expression in inner ear sensory hair cells and structural homology to vesicle fusion proteins indicated a role in synaptic vesicle membrane fusion. Candidate gene cloning, sequence analysis, northern blot expression analysis Nature genetics Medium 10192385
2000 OTOF encodes multiple long isoforms (six C2 domains, ~1,977 aa) and short isoforms (three C2 domains); genetic evidence from a splice-site mutation in intron 8 demonstrated that the long isoforms (but not the short isoforms) are required for inner ear function. Northern blot, cDNA cloning, exon-intron structure determination, mutation analysis in DFNB9 family American journal of human genetics Medium 10903124
2002 Missense mutations P490Q and I515T in the conserved C2C domain of otoferlin cause deafness; computer modeling suggested these substitutions alter the secondary structure and Ca2+-binding capacity of the C2C domain. SSCP analysis, DNA sequencing, comparative homology analysis, computer simulation Neurobiology of disease Low 12127154
2007 An ENU-induced missense mutation (I→N) in the C2B domain of mouse otoferlin causes profound deafness with absence of otoferlin immunoreactivity in cochlear hair cells, indicating the C2B domain is critical for protein stability. Otoferlin is dispensable for vestibular function despite expression in vestibular hair cells. ENU mutagenesis, immunohistochemistry, ABR and vestibular-evoked potential (VsEP) recordings Hearing research Medium 17967520
2021 In Otof knockout mice, otoferlin is required for proper synaptic pruning during cochlear development: absence of otoferlin delayed synaptic pruning (enlarged postsynaptic boutons at P14), led to progressive reduction of IHC synapses from ~15 at P14 to ~6 at 48 weeks, caused age-progressive loss of inner hair cells (to 75% of WT), and secondary degeneration of spiral ganglion neurons. Otof-/- mouse analysis, immunolabeling, synapse counting, DPOAE recording over 48 weeks Frontiers in cellular neuroscience Medium 34335185
2023 Apoptosis of type I spiral ganglion neurons (SGN-I) occurs in Otof-mutant mice starting from postnatal day 7, before hearing onset, with significantly reduced SGN numbers at P7, P14, and P28 compared to wild-type. Type II SGNs were not significantly affected, indicating selective vulnerability of SGN-I to loss of otoferlin-dependent synaptic input. Immunolabeling of SGN subtypes, TUNEL/apoptosis assay, ABR and DPOAE recording in Otoftm1a/tm1a mice Neuroscience letters Medium 36914046
2022 OTOF acts as a type I interferon-induced restriction factor that inhibits HIV-1 entry at the cell membrane of macrophages and dendritic cells. Silencing OTOF abrogated IFN-mediated suppression of HIV-1 infection; OTOF overexpression restricted HIV-1 in macrophages and CD4+ T cells. siRNA knockdown, overexpression, HIV-1 infection assay, gene expression profiling in macrophages/DCs mBio Medium 35862790
2025 Cryo-EM structures of Ca2+-bound otoferlin revealed that membrane binding involves the C2B and C2G domains and repositions the C2F and C2G domains. Progressive disruption of Ca2+-binding by the C2D domain in mice increasingly altered synaptic sound encoding and eliminated the Ca2+-cooperativity of synaptic vesicle exocytosis, establishing that Ca2+-cooperativity of exocytosis reflects binding of multiple Ca2+ ions to otoferlin. These findings support otoferlin as a Ca2+-sensor for synaptic vesicle fusion and tethering/docking in inner hair cells. Cryo-electron microscopy structure determination, molecular dynamics simulation, C2D-domain Ca2+-binding mutant mice, in vivo electrophysiology (synaptic sound encoding), Ca2+-cooperativity assay of SV exocytosis bioRxiv (preprint)preprint High
2019 Dual AAV-mediated delivery of split OTOF cDNA (5' and 3' halves) into the mature cochlea of Otof-/- mice reconstituted full-length otoferlin coding sequence through recombination, restored otoferlin expression in transduced hair cells, and reversed profound deafness durably. Dual AAV cochlear injection in Otof-/- mice, immunofluorescence, ABR testing Proceedings of the National Academy of Sciences of the United States of America High 30782832
2022 Protein trans-splicing-based dual AAV system expressed exogenous human otoferlin in inner hair cells and restored synaptic vesicle release, reversing bilateral profound deafness in Otof-/- mice for at least 6 months after a single unilateral injection. Dual AAV trans-splicing, immunofluorescence, synaptic vesicle release assay (capacitance), ABR recording Human genetics High 36383253
2025 An E1799del knock-in mouse model (mirroring human E1804del DFNB9 variant) exhibits abnormal otoferlin distribution and failure of synaptic transmission in inner hair cells, demonstrating that this variant causes profound hearing loss by disrupting otoferlin's presynaptic function. Homologous recombination knock-in mouse, immunofluorescence for otoferlin localization, IHC synaptic transmission assay, ABR recording, AAV gene therapy rescue Communications medicine Medium 40506483
2025 A minigene assay confirmed that the OTOF splice variant c.898-18G>A causes skipping of exon 10, establishing the molecular mechanism of this founder pathogenic allele. Minigene splicing assay Human genomics Medium 41053850
2021 An intronic OTOF mutation (c.2406+4A>G), four nucleotides from the canonical splice site, causes exon 20 skipping as confirmed by mRNA analysis, establishing a splicing defect mechanism for ANSD in this family. Whole-exome sequencing, RNA extraction and mRNA analysis (RT-PCR) Journal of genetics Medium 36988134
2021 A splice site variant c.3289-1G>T in OTOF causes deletion of 10 or 13 bp from exon 27, resulting in two truncated otoferlin proteins (1141 and 1140 aa), as demonstrated by minigene assay and RT-PCR. Minigene assay, RT-PCR BMC medical genomics Medium 33397372
2024 AAV-mediated delivery of OTOF using a hair cell-specific Myo15 promoter in Otof-/- mice restored otoferlin expression specifically in hair cells, improved exocytosis function of inner hair cells (measured by membrane capacitance), and rescued hearing. AAV cochlear injection with Myo15 promoter, immunofluorescence, membrane capacitance (exocytosis assay), ABR recording Molecular therapy. Nucleic acids Medium 38404504

Source papers

Stage 0 corpus · 92 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1999 A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nature genetics 439 10192385
2019 Dual AAV-mediated gene therapy restores hearing in a DFNB9 mouse model. Proceedings of the National Academy of Sciences of the United States of America 235 30782832
2003 Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF). Human mutation 167 14635104
2024 AAV-Mediated Gene Therapy Restores Hearing in Patients with DFNB9 Deafness. Advanced science (Weinheim, Baden-Wurttemberg, Germany) 161 38189623
2000 OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9. American journal of human genetics 161 10903124
2008 A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy. Human mutation 156 18381613
2005 OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele. Journal of medical genetics 123 16371502
2005 Results of cochlear implantation in two children with mutations in the OTOF gene. International journal of pediatric otorhinolaryngology 94 16226319
2009 Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan. Clinical genetics 92 19250381
2012 A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy. Clinical genetics 76 22575033
2023 Preclinical Efficacy And Safety Evaluation of AAV-OTOF in DFNB9 Mouse Model And Nonhuman Primate. Advanced science (Weinheim, Baden-Wurttemberg, Germany) 67 38014592
2022 Hearing of Otof-deficient mice restored by trans-splicing of N- and C-terminal otoferlin. Human genetics 60 36383253
2015 Audibility, speech perception and processing of temporal cues in ribbon synaptic disorders due to OTOF mutations. Hearing research 55 26188103
2002 Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness. Neurobiology of disease 54 12127154
2010 Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy. Audiology & neuro-otology 53 20224275
2009 Novel OTOF mutations in Brazilian patients with auditory neuropathy. Journal of human genetics 53 19461658
2005 A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy. American journal of medical genetics. Part A 53 16097006
2010 Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy. BMC medical genetics 52 20504331
2020 The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment. Genes 50 33256196
2007 A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9. Hearing research 45 17967520
2002 A study of peptide-peptide interactions using MALDI ion mobility o-TOF and ESI mass spectrometry. Journal of the American Society for Mass Spectrometry 45 11838019
2000 Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus. European journal of human genetics : EJHG 45 10878664
2019 OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients. PloS one 42 31095577
2023 RNA base editing therapy cures hearing loss induced by OTOF gene mutation. Molecular therapy : the journal of the American Society of Gene Therapy 40 37915172
2016 High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder. Clinical genetics 40 26818607
2013 OTOF mutation screening in Japanese severe to profound recessive hearing loss patients. BMC medical genetics 39 24053799
2012 Screening of OTOF mutations in Iran: a novel mutation and review. International journal of pediatric otorhinolaryngology 35 22906306
2021 Otoferlin Is Required for Proper Synapse Maturation and for Maintenance of Inner and Outer Hair Cells in Mouse Models for DFNB9. Frontiers in cellular neuroscience 33 34335185
2024 Hair cell-specific Myo15 promoter-mediated gene therapy rescues hearing in DFNB9 mouse model. Molecular therapy. Nucleic acids 28 38404504
2018 Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics. Journal of translational medicine 28 30482216
2020 Cochlear Implantation Outcomes in Patients With OTOF Mutations. Frontiers in neuroscience 27 32508568
2010 Five new OTOF gene mutations and auditory neuropathy. International journal of pediatric otorhinolaryngology 24 20211493
2013 Identification of novel OTOF compound heterozygous mutations by targeted next-generation sequencing in a Chinese patient with auditory neuropathy spectrum disorder. International journal of pediatric otorhinolaryngology 20 24001616
2021 Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan. Human genetics 19 34536124
2021 Cochlear Synaptopathy due to Mutations in OTOF Gene May Result in Stable Mild Hearing Loss and Severe Impairment of Speech Perception. Ear and hearing 17 33908410
2021 The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study. Human genetics 16 34424407
2018 Targeted next generation sequencing reveals OTOF mutations in auditory neuropathy spectrum disorder. International journal of pediatric otorhinolaryngology 16 30368385
2014 Evidence for genotype-phenotype correlation for OTOF mutations. International journal of pediatric otorhinolaryngology 16 24746455
2011 Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder. PloS one 16 21935370
2016 Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population. The application of clinical genetics 15 27621663
2019 Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next-generation sequencing. Molecular genetics & genomic medicine 14 31250571
2014 Identification of a novel splice site variant of OTOF in the Korean nonsyndromic hearing loss population with low prevalence of the OTOF mutations. International journal of pediatric otorhinolaryngology 14 24814232
2017 Mutations in OTOF, CLDN14 & SLC26A4 genes as major causes of hearing impairment in Dhadkai village, Jammu & Kashmir, India. The Indian journal of medical research 13 29434063
2016 Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia). PloS one 13 27082237
2021 Electrocochleography in Auditory Neuropathy Related to Mutations in the OTOF or OPA1 Gene. Audiology research 12 34940017
2017 Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder. BMC medical genetics 11 28335750
2022 Membrane Protein OTOF Is a Type I Interferon-Induced Entry Inhibitor of HIV-1 in Macrophages. mBio 10 35862790
2018 Novel OTOF gene mutations identified using a massively parallel DNA sequencing technique in DFNB9 deafness. Acta oto-laryngologica 10 30073893
2005 [Prevalence of the 35delG mutation in the GJB2 gene, del (GJB6-D13S1830) in the GJB6 gene, Q829X in the OTOF gene and A1555G in the mitochondrial 12S rRNA gene in subjects with non-syndromic sensorineural hearing impairment of congenital/childhood onset]. Acta otorrinolaringologica espanola 10 16425640
2023 Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families. Human genomics 9 37189200
2021 Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene. Frontiers in cell and developmental biology 9 34692690
2020 [OTOF-related auditory neuropathy spectrum disorder]. Vestnik otorinolaringologii 9 32476384
2019 Auditory Neuropathy Spectrum Disorder due to Two Novel Compound Heterozygous OTOF Mutations in Two Chinese Families. Neural plasticity 9 31827501
2021 Whole-Exome Sequencing Reveals a Rare Variant of OTOF Gene Causing Congenital Non-syndromic Hearing Loss Among Large Muslim Families Favoring Consanguinity. Frontiers in genetics 6 34113375
2018 Elongated EABR wave latencies observed in patients with auditory neuropathy caused by OTOF mutation. Laryngoscope investigative otolaryngology 6 30410993
2016 Genetic Linkage Analysis of DFNB3, DFNB9 and DFNB21 Loci in GJB2 Negative Families with Autosomal Recessive Non-syndromic Hearing Loss. Iranian journal of public health 6 27398341
2006 [Auditory neuropathy due to the Q829X mutation in the gene encoding otoferlin (OTOF) in an infant screened for newborn hearing impairment]. Acta otorrinolaringologica espanola 6 17036997
2023 Temperature-Sensitive Auditory Neuropathy: Report of a Novel Variant of OTOF Gene and Review of Current Literature. Medicina (Kaunas, Lithuania) 5 36837553
2023 Predicting the Impact of OTOF Gene Missense Variants on Auditory Neuropathy Spectrum Disorder. International journal of molecular sciences 5 38139069
2021 A splice-site variant (c.3289-1G>T) in OTOF underlies profound hearing loss in a Pakistani kindred. BMC medical genomics 5 33397372
2018 An OTOF Frameshift Variant Associated with Auditory Neuropathy Spectrum Disorder. Current genomics 5 30065612
2004 [Evaluation of a family with sensorineural hearing loss due to the Q829X mutation in the OTOF gene]. Acta otorrinolaringologica espanola 5 15253338
2025 Pathogenesis and research progress of OTOF gene related auditory neuropathy: a retrospective review. American journal of translational research 4 40226018
2022 Genetic Medicine for Hearing Loss: OTOF as Exemplar. Journal of the American Academy of Audiology 4 35609591
2018 A Novel Pathologic Variant in OTOF in an Iranian Family Segregating Hereditary Hearing Loss. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 4 29484972
2024 Hearing loss secondary to variants in the OTOF gene. International journal of pediatric otorhinolaryngology 3 39265223
2023 Apoptosis of type I spiral ganglion neuron cells in Otof-mutant mice. Neuroscience letters 3 36914046
2023 Preservation of Distortion Product Otoacoustic Emissions in OTOF -Related Hearing Impairment. Ear and hearing 3 37677959
2017 A case of auditory neuropathy revealed by OTOF gene mutation analysis in a junior high school girl. Journal of otology 2 29937857
2026 Multicentre gene therapy for OTOF-related deafness followed up to 2.5 years. Nature 1 42020731
2025 Gradual recovery of auditory brainstem responses in the first DFNB9 patients with successful virus-mediated gene therapy. Med (New York, N.Y.) 1 40782672
2025 A multicenter study reveals a novel pathogenic splice-site founder variant in OTOF. Human genomics 1 41053850
2024 [The updates of the ACMG variant interpretation guidelines affect the pathogenicity determination of OTOF gene variations in patients with auditory neuropathy]. Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 1 38811176
2024 A novel mutation in the OTOF gene in a Chinese family with auditory neuropathy. Intractable & rare diseases research 1 38836175
2023 Intronic OTOF mutation causes an atypical splicing defect resulting in auditory neuropathy spectrum disorder. Journal of genetics 1 36988134
2007 [Sequence analysis of OTOF gene in a Chinese pedigree with autosomal dominant auditory neuropathy]. Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery 1 18035737
2026 Precise and efficient DNA base editing restores normal hearing in adult DFNB9 mouse model. Med (New York, N.Y.) 0 41763223
2026 The development of inner ear gene therapy for DFNB9: From bench to bedside. Hearing research 0 41812306
2026 Generation of marmoset monkeys with a non-mosaic disruption of the OTOF gene as a model of human deafness. Nature communications 0 41904122
2026 Generation of human induced pluripotent stem cell lines from a patient with OTOF-related deafness and a carrier relative. Stem cell research 0 42000544
2026 Transient disappearance of otoacoustic emissions after conventional hearing aid use in OTOF-related auditory neuropathy. International journal of audiology 0 42037272
2026 Audiological Phenotype, Natural History, and Intervention in Chinese Patients With Auditory Neuropathy Caused by OTOF Variants. Ear and hearing 0 42144633
2025 Auditory Neuropathy Caused by a Structural Variation in the OTOF Gene, Identified Using Oxford Nanopore Adaptive Sampling. Genes 0 40004445
2025 [The natural history of the relationship between OTOF mutation-related genotypes and audiological phenotypes]. Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery 0 40166883
2025 Transcriptomics and phenotypic analysis of OTOF gene knockdown in zebrafish mediated by CRISPR/Cas9. Gene expression patterns : GEP 0 40250544
2025 Unraveling the complex genetic landscape of OTOF-related hearing loss: a deep dive into cryptic variants and haplotype phasing. Molecular medicine (Cambridge, Mass.) 0 40346465
2025 Timely Intervention: Navigating Ethical Challenges in OTOF-Gene Therapy Trials. Human gene therapy 0 40432592
2025 Cochlear gene therapy restores hearing and auditory processing in an atypical DFNB9 mouse model. Communications medicine 0 40506483
2025 Comparative analysis of RNA versus protein splicing in dual AAV-mediated gene therapy in a mouse model of DFNB9 deafness. Molecular therapy : the journal of the American Society of Gene Therapy 0 41058172
2025 CRISPR-free RNA base editing mediated PTC-readthrough restores hearing in mice with Otof nonsense mutation. Nature communications 0 41353207
2024 [Study on gene therapy for DPOAE and ABR threshold changes in adult Otof-/- mice]. Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery 0 38297849
2023 Association of R1939W and P1987R variants of Otoferlin (OTOF) gene with severe to profound nonsyndromic sensorineural hearing loss in Pakistani subjects. Pakistan journal of medical sciences 0 37680836

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