ArticleAmerican journal of human genetics2012
Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 1 of them a synthesis that pooled it.
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53 citing papers in PubMed, 1 synthesis or guideline pooled it, 91 citations in OpenAlex.
- A genome-wide meta-analysis uncovers six sequence variants conferring risk of vertigo.Communications biology · 2021Pooled it
- TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non-Syndromic Hearing Loss.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
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- Novel candidate genes for vestibular function identified through GWAS in the hybrid mouse diversity panel.BMC genomics · 2026Article
- Genetic and Environmental Factors Shaping Hearing Loss: Xenobiotics, Mechanisms and Translational Perspectives.Journal of xenobiotics · 2026Review
- TMEM145 is a key stereociliary component in the link structures of outer hair cells and mediates the secretion of stereocilin and tubby.Nature communications · 2025Article
- Replication of MissenseGenes · 2025Article
- Novel variant inBMJ case reports · 2025Article
- Preclinical Models to Study the Molecular Pathophysiology of Meniere's Disease: A Pathway to Gene Therapy.Journal of clinical medicine · 2025Article
- Prevalence and Clinical Characteristics ofGenes · 2025Article
- NovelGenes · 2025Article
- Tectorial membrane: structure, function, and its implications for hearing loss.Frontiers in neurology · 2025Review
- Clinical Genetic Testing for Hearing Loss: Implications for Genetic Counseling and Gene-Based Therapies.Biomedicines · 2024Article
- Whole Exome Sequencing of Non-Syndromic Hearing Loss Patients.Iranian journal of public health · 2024Article
- CACNA1D-Related Channelopathies: From Hypertension to Autism.Handbook of experimental pharmacology · 2023Review
- Recent advances in understanding molecular bases of Ménière's disease.Faculty reviews · 2023Review
- ARNSHL gene identification: past, present and future.Molecular genetics and genomics : MGG · 2022Review
- A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.Annals of human genetics · 2022Article
- First glance at the molecular etiology of hearing loss in French-Canadian families from Saguenay-Lac-Saint-Jean's founder population.Human genetics · 2022Article
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21 authors at 8 institutions in 4 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Already 40 genes have been identified for autosomal-recessive nonsyndromic hearing impairment (arNSHI); however, many more genes are still to be identified. In a Dutch family segregating arNSHI, homozygosity mapping revealed a 2.4 Mb homozygous region on chromosome 11 in p15.1-15.2, which partially overlapped with the previously described DFNB18 locus. However, no putative pathogenic variants were found in USH1C, the gene mutated in DFNB18 hearing impairment. The homozygous region contained 12 additional annotated genes including OTOG, the gene encoding otogelin, a component of the tectorial membrane. It is thought that otogelin contributes to the stability and strength of this membrane through interaction or stabilization of its constituent fibers. The murine orthologous gene was already known to cause hearing loss when defective. Analysis of OTOG in the Dutch family revealed a homozygous 1 bp deletion, c.5508delC, which leads to a shift in the reading frame and a premature stop codon, p.Ala1838ProfsX31. Further screening of 60 unrelated probands from Spanish arNSHI families detected compound heterozygous OTOG mutations in one family, c.6347C>T (p.Pro2116Leu) and c. 6559C>T (p.Arg2187X). The missense mutation p.Pro2116Leu affects a highly conserved residue in the fourth von Willebrand factor type D domain of otogelin. The subjects with OTOG mutations have a moderate hearing impairment, which can be associated with vestibular dysfunction. The flat to shallow "U" or slightly downsloping shaped audiograms closely resembled audiograms of individuals with recessive mutations in the gene encoding α-tectorin, another component of the tectorial membrane. This distinctive phenotype may represent a clue to orientate the molecular diagnosis.
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