ArticleBMC medical genetics2013
OTOF mutation screening in Japanese severe to profound recessive hearing loss patients.
Article in BMC medical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 43 citations in OpenAlex.
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- Diagnostic yield of whole exome sequencing with targeted gene analysis in prelingual sensorineural hearing loss in Thailand.Scientific reports · 2025Article
- CRISPR-Cas technologies: Emerging tools from research to clinical application.Journal of microbiology (Seoul, Korea) · 2025Review
- Unraveling the complex genetic landscape of OTOF-related hearing loss: a deep dive into cryptic variants and haplotype phasing.Molecular medicine (Cambridge, Mass.) · 2025Article
- Pathogenesis and research progress of OTOF gene related auditory neuropathy: a retrospective review.American journal of translational research · 2025Review
- Molecular and Clinical Characterization of a Cohort of Autosomal Recessive Sensorineural Hearing Loss in Egyptian Patients.Journal of molecular neuroscience : MN · 2024Article
- Autosomal Recessive Non-Syndromic Deafness: Is AAV Gene Therapy a Real Chance?Audiology research · 2024Review
- The natural history, clinical outcomes, and genotype-phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review.Human genetics · 2023Review
- Probing the role of the CFrontiers in molecular neuroscience · 2023Article
- Recent advances in genetic etiology of non-syndromic deafness in children.Frontiers in neuroscience · 2023Review
- The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.Human genetics · 2022Review
- The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.Human genetics · 2022Article
- Milestones toward cochlear gene therapy for patients with hereditary hearing loss.Laryngoscope investigative otolaryngology · 2021Review
- Congenital Deafness and Recent Advances Towards Restoring Hearing Loss.Current protocols · 2021Article
- NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss.Human molecular genetics · 2021Article
- Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next-generation sequencing.Journal of clinical laboratory analysis · 2020Article
- Altered Gap Junction Network Topography in Mouse Models for Human Hereditary Deafness.International journal of molecular sciences · 2020Article
- Cochlear Implantation From the Perspective of Genetic Background.Anatomical record (Hoboken, N.J. : 2007) · 2020Review
- Auditory Neuropathy Spectrum Disorder (ANSD)-Clinical Characteristics and Pathogenic Variant Analysis of Three Nonsyndromic Deafness Families.BioMed research international · 2020Article
- A dual-AAV approach restores fast exocytosis and partially rescues auditory function in deaf otoferlin knock-out mice.EMBO molecular medicine · 2019Article
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAuditory neuropathy spectrum disorder (ANSD) is a unique form of hearing loss that involves absence or severe abnormality of auditory brainstem response (ABR), but also the presence of otoacoustic emissions (OAEs). However, with age, the OAEs disappear, making it difficult to distinguish this condition from other nonsyndromic hearing loss. Therefore, the frequency of ANSD may be underestimated. The aim of this study was to determine what portion of nonsyndromic hearing loss is caused by mutations of OTOF, the major responsible gene for nonsyndromic ANSD.
methodsWe screened 160 unrelated Japanese with severe to profound recessive nonsyndromic hearing loss (ARNSHL) without GJB2 or SLC26A4 mutations, and 192 controls with normal hearing.
resultsWe identified five pathogenic OTOF mutations (p.D398E, p.Y474X, p.N727S, p.R1856Q and p.R1939Q) and six novel, possibly pathogenic variants (p.D450E, p.W717X, p.S1368X, p.R1583H, p.V1778I, and p.E1803A).
conclusionsThe present study showed that OTOF mutations accounted for 3.2-7.3% of severe to profound ARNSHL patients in Japan. OTOF mutations are thus a frequent cause in the Japanese deafness population and mutation screening should be considered regardless of the presence/absence of OAEs.
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