ArticleNature genetics2008
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.
Article in Nature genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 1 of them a synthesis that pooled it.
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Who cites it
46 citing papers in PubMed, 1 synthesis or guideline pooled it, 87 citations in OpenAlex.
- Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges.Human genetics · 2022Pooled it
- Molecular identity of the mechanotransduction machinery in inner ear hair cells and mechanotransduction-linked hearing loss.Fundamental research · 2026Review
- Alternatively Spliced Dual-Coding Regions Contribute to the Human Gene Regulatory Program.bioRxiv : the preprint server for biology · 2026Article
- Transcriptomic and metabolomic basis of seasonal auditory sensitivity variations in the red-eared slider (Trachemys scripta elegans).BMC genomics · 2025Article
- Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.Journal of cellular and molecular medicine · 2024Review
- Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.Frontiers in genetics · 2024Article
- Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2023Article
- Mechanoelectrical transduction-related genetic forms of hearing loss.Current opinion in physiology · 2023Article
- Molecular aetiology of ski-slope hearing loss and audiological course of cochlear implantees.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2022Article
- ARNSHL gene identification: past, present and future.Molecular genetics and genomics : MGG · 2022Review
- Deep analysis of the LRTOMTc.242G>A variant in non-syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies.Molecular genetics & genomic medicine · 2021Article
- Mechanisms in cochlear hair cell mechano-electrical transduction for acquisition of sound frequency and intensity.Cellular and molecular life sciences : CMLS · 2021Review
- Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss.Hearing research · 2020Article
- A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.BMC medical genetics · 2020Article
- Article
- Function and Dysfunction of TMC Channels in Inner Ear Hair Cells.Cold Spring Harbor perspectives in medicine · 2019Review
- Molecular Structure of the Hair Cell Mechanoelectrical Transduction Complex.Cold Spring Harbor perspectives in medicine · 2019Review
- Analysis of p.Gly12Valfs*2, p.Trp24* and p.Trp77Arg mutations in GJB2 and p.Arg81Gln variant in LRTOMT among non syndromic hearing loss Egyptian patients: implications for genetic diagnosis.Molecular biology reports · 2019Article
- Genetic Hearing Loss and Gene Therapy.Genomics & informatics · 2018Article
- Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.The Journal of molecular diagnostics : JMD · 2018Article
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Authors and funding
26 authors at 8 institutions in 5 countries.
Funding
Abstract
Many proteins necessary for sound transduction have been identified through positional cloning of genes that cause deafness. We report here that mutations of LRTOMT are associated with profound nonsyndromic hearing loss at the DFNB63 locus on human chromosome 11q13.3-q13.4. LRTOMT has two alternative reading frames and encodes two different proteins, LRTOMT1 and LRTOMT2, detected by protein blot analyses. LRTOMT2 is a putative methyltransferase. During evolution, new transcripts can arise through partial or complete coalescence of genes. We provide evidence that in the primate lineage LRTOMT evolved from the fusion of two neighboring ancestral genes, which exist as separate genes (Lrrc51 and Tomt) in rodents.
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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.