ArticleHuman mutation2011
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.
Article in Human mutation, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed.
- Trial
- Prevalence and clinical features of hearing loss caused by EYA4 variants.Scientific reports · 2020Trial
- Integrative genetic and functional analysis of autosomal dominant hearing loss in 108 multigenerational families.Journal of molecular medicine (Berlin, Germany) · 2026Article
- HSD17B7 is required for the function of sensory hair cells by regulating cholesterol synthesis.eLife · 2026Article
- Genetic and Environmental Factors Shaping Hearing Loss: Xenobiotics, Mechanisms and Translational Perspectives.Journal of xenobiotics · 2026Review
- A novel splicing variant in TECTA associated with prelingual autosomal dominant nonsyndromic hearing loss via dominant-negative effect.Human molecular genetics · 2025Article
- Prevalence and Clinical Characteristics ofGenes · 2025Article
- Whole Genome Sequencing Improves the Identification of Pathogenic and Novel Variation in Nonsyndromic Hearing Loss.Human mutation · 2025Article
- Identification of a novel EYA4 likely pathogenic variant in a Chinese family with postlingual non-syndromic hearing loss and analysis of molecular epidemiology of EYA4 variants.BMC medical genomics · 2024Article
- Chromosome-level genome and population genomics of the intermediate horseshoe bat (Zoological research · 2024Article
- Clinical Genetic Testing for Hearing Loss: Implications for Genetic Counseling and Gene-Based Therapies.Biomedicines · 2024Article
- Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia.Croatian medical journal · 2024Article
- Clinical relevance of the TECTA c.6183G>T variant identified in a family with autosomal dominant hearing loss: a case report.Croatian medical journal · 2023Article
- Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review.Biomedicines · 2023Review
- Recent advances in genetic etiology of non-syndromic deafness in children.Frontiers in neuroscience · 2023Review
- Genetic etiology of non-syndromic hearing loss in Europe.Human genetics · 2022Review
- Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss.Human genetics · 2022Article
- Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss.Scientific reports · 2021Article
- Spontaneous otoacoustic emissions are biomarkers for mice with tectorial membrane defects.Hearing research · 2021Article
- Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.American journal of human genetics · 2020Article
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Authors and funding
27 authors.
Funding
Abstract
The prevalence of DFNA8/DFNA12 (DFNA8/12), a type of autosomal dominant nonsyndromic hearing loss (ADNSHL), is unknown as comprehensive population-based genetic screening has not been conducted. We therefore completed unbiased screening for TECTA mutations in a Spanish cohort of 372 probands from ADNSHL families. Three additional families (Spanish, Belgian, and English) known to be linked to DFNA8/12 were also included in the screening. In an additional cohort of 835 American ADNSHL families, we preselected 73 probands for TECTA screening based on audiometric data. In aggregate, we identified 23 TECTA mutations in this process. Remarkably, 20 of these mutations are novel, more than doubling the number of reported TECTA ADNSHL mutations from 13 to 33. Mutations lie in all domains of the α-tectorin protein, including those for the first time identified in the entactin domain, as well as the vWFD1, vWFD2, and vWFD3 repeats, and the D1-D2 and TIL2 connectors. Although the majority are private mutations, four of them-p.Cys1036Tyr, p.Cys1837Gly, p.Thr1866Met, and p.Arg1890Cys-were observed in more than one unrelated family. For two of these mutations founder effects were also confirmed. Our data validate previously observed genotype-phenotype correlations in DFNA8/12 and introduce new correlations. Specifically, mutations in the N-terminal region of α-tectorin (entactin domain, vWFD1, and vWFD2) lead to mid-frequency NSHL, a phenotype previously associated only with mutations in the ZP domain. Collectively, our results indicate that DFNA8/12 hearing loss is a frequent type of ADNSHL.
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