ArticlePloS one2014
A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese family.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.
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48 citing papers in PubMed, 71 citations in OpenAlex.
- HSD17B7 is required for the function of sensory hair cells by regulating cholesterol synthesis.eLife · 2026Article
- Molecular Mechanisms of Aminoglycoside-Induced Ototoxicity in Murine Auditory Cells: Implications for Otoprotective Drug Development.International journal of molecular sciences · 2025Article
- Identification of druggable binding sites and small molecules as modulators of TMC1.Communications biology · 2025Article
- Current AAV-mediated gene therapy in sensorineural hearing loss.Fundamental research · 2025Review
- Genetic correction of induced pluripotent stem cells from a DFNA36 patient results in morphologic and functional recovery of derived hair cell-like cells.Stem cell research & therapy · 2024Article
- Novel autosomal dominant TMC1 variants linked to hearing loss: insight into protein-lipid interactions.BMC medical genomics · 2023Article
- Deafness: from genetic architecture to gene therapy.Nature reviews. Genetics · 2023Review
- The applications of CRISPR/Cas-mediated genome editing in genetic hearing loss.Cell & bioscience · 2023Review
- Mutation-agnostic RNA interference with engineered replacement rescuesLife science alliance · 2023Article
- Recent advances in CRISPR-Cas system for the treatment of genetic hearing loss.American journal of stem cells · 2023Review
- The conductance and organization of the TMC1-containing mechanotransducer channel complex in auditory hair cells.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss.Human genetics · 2022Article
- Preventing autosomal-dominant hearing loss in Bth mice with CRISPR/CasRx-based RNA editing.Signal transduction and targeted therapy · 2022Article
- Milestones toward cochlear gene therapy for patients with hereditary hearing loss.Laryngoscope investigative otolaryngology · 2021Review
- Advances and challenges in adeno-associated viral inner-ear gene therapy for sensorineural hearing loss.Molecular therapy. Methods & clinical development · 2021Review
- New Tmc1 Deafness Mutations Impact Mechanotransduction in Auditory Hair Cells.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2021Article
- Single and Dual Vector Gene Therapy with AAV9-PHP.B Rescues Hearing in Tmc1 Mutant Mice.Molecular therapy : the journal of the American Society of Gene Therapy · 2021Article
- Advances in genome editing for genetic hearing loss.Advanced drug delivery reviews · 2021Review
- Progress in Gene Editing Tools and Their Potential for Correcting Mutations Underlying Hearing and Vision Loss.Frontiers in genome editing · 2021Review
- Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
Corrections and comments
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Authors and funding
16 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the transmembrane channel-like gene 1 (TMC1) can cause both DFNA36 and DFNB7/11 hearing loss. More than thirty DFNB7/11 mutations have been reported, but only three DFNA36 mutations were reported previously. In this study, we found a large Chinese family with 222 family members showing post-lingual, progressive sensorineural hearing loss which were consistent with DFNA36 hearing loss. Auditory brainstem response (ABR) test of the youngest patient showed a special result with nearly normal threshold but prolonged latency, decreased amplitude, and the abnormal waveform morphology. Exome sequencing of the proband found four candidate variants in known hearing loss genes. Sanger sequencing in all family members found a novel variant c.1253T>A (p.M418K) in TMC1 at DFNA36 that co-segregated with the phenotype. This mutation in TMC1 is orthologous to the mutation found in the hearing loss mouse model named Bth ten years ago. In another 51 Chinese autosomal dominant hearing loss families, we screened the segments containing the dominant mutations of TMC1 and no functional variants were found. TMC1 is expressed in the hair cells in inner ear. Given the already known roles of TMC1 in the mechanotransduction in the cochlea and its expression in inner ear, our results may provide an interesting perspective into its function in inner ear.
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