ArticleJournal of medical genetics2006
Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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Who cites it
55 citing papers in PubMed, 100 citations in OpenAlex.
- Molecular identity of the mechanotransduction machinery in inner ear hair cells and mechanotransduction-linked hearing loss.Fundamental research · 2026Review
- Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan.Scientific reports · 2026Article
- LHFPL5 splice site variant in a cat with deafness and vestibular dysfunction.Animal genetics · 2025Article
- Article
- Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.Journal of cellular and molecular medicine · 2024Review
- LHFPL5 is a key element in force transmission from the tip link to the hair cell mechanotransducer channel.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Mechanoelectrical transduction-related genetic forms of hearing loss.Current opinion in physiology · 2023Article
- The tetraspan LHFPL5 is critical to establish maximal force sensitivity of the mechanotransduction channel of cochlear hair cells.Cell reports · 2023Article
- Multiple plasma membrane reporters discern LHFPL5 region that blocks trafficking to the plasma membrane.Scientific reports · 2023Article
- Review
- ARNSHL gene identification: past, present and future.Molecular genetics and genomics : MGG · 2022Review
- Mechanotransduction in mammalian sensory hair cells.Molecular and cellular neurosciences · 2022Review
- Advances and challenges in adeno-associated viral inner-ear gene therapy for sensorineural hearing loss.Molecular therapy. Methods & clinical development · 2021Review
- Mechanisms in cochlear hair cell mechano-electrical transduction for acquisition of sound frequency and intensity.Cellular and molecular life sciences : CMLS · 2021Review
- The Mechanosensory Transduction Machinery in Inner Ear Hair Cells.Annual review of biophysics · 2021Review
- Deafness mutation D572N of TMC1 destabilizes TMC1 expression by disrupting LHFPL5 binding.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss.Hearing research · 2020Article
- Adeno-associated virus gene replacement for recessive inner ear dysfunction: Progress and challenges.Hearing research · 2020Review
- Fetal gene therapy and pharmacotherapy to treat congenital hearing loss and vestibular dysfunction.Hearing research · 2020Review
- Article
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 3 countries.
Funding
Abstract
backgroundApproximately half the cases of prelingual hearing loss are caused by genetic factors. Identification of genes causing deafness is a crucial first step in understanding the normal function of these genes in the auditory system. Recently, a mutant allele of Tmhs was reported to be associated with deafness and circling behaviour in the hurry-scurry mouse. Tmhs encodes a predicted tetraspan protein of unknown function, which is expressed in inner ear hair cells. The human homologue of Tmhs is located on chromosome 6p.
objectiveTo determine the cause of deafness in four consanguineous families segregating recessive deafness linked to markers on chromosome 6p21.1-p22.3 defining a novel DFNB locus.
resultsA novel locus for non-syndromic deafness DFNB67 was mapped in an interval of approximately 28.51 cM on human chromosome 6p21.1-p22.3. DNA sequence analysis of TMHS revealed a homozygous frameshift mutation (246delC) and a missense mutation (Y127C) in affected individuals of two families segregating non-syndromic deafness, one of which showed significant evidence of linkage to markers in the DFNB67 interval. The localisation of mTMHS in developing mouse inner ear hair cells was refined and found to be expressed briefly from E16.5 to P3.
conclusionsThese findings establish the importance of TMHS for normal sound transduction in humans.
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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.