ArticleProceedings of the National Academy of Sciences of the United States of America2020
Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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34 citing papers in PubMed, 55 citations in OpenAlex.
- Sensory decline in aging and neurodegeneration: A mitochondrial perspective.Pharmacological research · 2026Review
- Polygenic Contribution to Sensorineural Hearing Loss Implicates Novel Risk Loci and Convergence with Congenital Hearing Loss Genes.Journal of the Association for Research in Otolaryngology : JARO · 2026Article
- Presbycusis Across the Lifespan: Genetic, Molecular, and Multi-Omics Contributions.Audiology research · 2026Review
- Cross-species validation of a human age-related hearing loss candidate KLHDC7B as essential for mammalian hearing.Communications biology · 2025Article
- TNFAIP8L2 maintains hair cell function and regulates age-related hearing loss via mTORC1 signaling.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Molecular Determinants of TMC Protein Biogenesis and Trafficking.International journal of molecular sciences · 2025Article
- The rise of cochlear gene therapy.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Review
- Mendelian non-syndromic and syndromic hearing loss genes contribute to presbycusis.European journal of human genetics : EJHG · 2025Article
- Dominant effect of a single amino acid mutation in the motor domain of myosin VI on hearing in mice.Experimental animals · 2025Article
- Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variants.Human genetics · 2025Article
- Tectorial membrane: structure, function, and its implications for hearing loss.Frontiers in neurology · 2025Review
- POLD3 haploinsufficiency is linked to non-syndromic sensorineural adult-onset progressive hearing and balance impairments.European journal of human genetics : EJHG · 2025Article
- Pathophysiological processes underlying hidden hearing loss revealed in Kcnt1/2 double knockout mice.Aging cell · 2024Article
- Detailed Clinical Features ofGenes · 2024Article
- Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- NovelFrontiers in genetics · 2024Article
- Third-generation lentiviral gene therapy rescues function in a mouse model of Usher 1B.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- Article
- Deafness: from genetic architecture to gene therapy.Nature reviews. Genetics · 2023Review
- Recent advances and future challenges in gene therapy for hearing loss.Royal Society open science · 2023Review
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Authors and funding
36 authors at 12 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Presbycusis, or age-related hearing loss (ARHL), is a major public health issue. About half the phenotypic variance has been attributed to genetic factors. Here, we assessed the contribution to presbycusis of ultrarare pathogenic variants, considered indicative of Mendelian forms. We focused on severe presbycusis without environmental or comorbidity risk factors and studied multiplex family age-related hearing loss (mARHL) and simplex/sporadic age-related hearing loss (sARHL) cases and controls with normal hearing by whole-exome sequencing. Ultrarare variants (allele frequency [AF] < 0.0001) of 35 genes responsible for autosomal dominant early-onset forms of deafness, predicted to be pathogenic, were detected in 25.7% of mARHL and 22.7% of sARHL cases vs. 7.5% of controls (
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