ArticleJournal of human genetics2010
Evidence for a founder mutation causing DFNA5 hearing loss in East Asians.
Article in Journal of human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
35 citing papers in PubMed, 49 citations in OpenAlex.
- The gasdermin family: from pyroptosis mechanisms to therapeutic targets.Signal transduction and targeted therapy · 2026Review
- Pyroptosis in endometritis: Molecular mechanisms, pathogenic roles, and therapeutic opportunities.iScience · 2026Review
- Mechanistic insights into gasdermin-mediated pyroptosis.Nature reviews. Molecular cell biology · 2025Review
- Gain-of-function variants in GSDME cause pyroptosis and apoptosis associated with post-lingual hearing loss.Human genetics · 2024Article
- The gasdermin family: emerging therapeutic targets in diseases.Signal transduction and targeted therapy · 2024Review
- [Splicing mutations ofLin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2024Article
- Novel, pathogenic insertion variant of GSDME associates with autosomal dominant hearing loss in a large Chinese pedigree.Journal of cellular and molecular medicine · 2024Article
- Global Distribution of Founder Variants Associated with Non-Syndromic Hearing Impairment.Genes · 2023Review
- Alternative splicing in shaping the molecular landscape of the cochlea.Frontiers in cell and developmental biology · 2023Review
- Identification of the First SingleDiagnostics (Basel, Switzerland) · 2022Article
- Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.PloS one · 2022Article
- Gasdermins: New Therapeutic Targets in Host Defense, Inflammatory Diseases, and Cancer.Frontiers in immunology · 2022Review
- Gasdermins in Innate Host Defense AgainstFrontiers in immunology · 2022Review
- Modulation of Autoimmune and Autoinflammatory Diseases by Gasdermins.Frontiers in immunology · 2022Review
- Channelling inflammation: gasdermins in physiology and disease.Nature reviews. Drug discovery · 2021Review
- Mini-Review: GSDME-Mediated Pyroptosis in Diabetic Nephropathy.Frontiers in pharmacology · 2021Review
- The Versatile Gasdermin Family: Their Function and Roles in Diseases.Frontiers in immunology · 2021Review
- Article
- Case Report: Novel HeterozygousFrontiers in genetics · 2020Article
- Gasdermins in Apoptosis: New players in an Old Game.The Yale journal of biology and medicine · 2019Review
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 3 countries.
Funding
Abstract
Mutations in the DFNA5 gene are known to cause autosomal dominant non-syndromic hearing loss (ADNSHL). To date, five DFNA5 mutations have been reported, all of which were different in the genomic level. In this study, we ascertained a Korean family with autosomal dominant, progressive and sensorineural hearing loss and performed linkage analysis that revealed linkage to the DFNA5 locus on chromosome 7. Sequence analysis of DFNA5 identified a 3-bp deletion in intron 7 (c.991-15_991-13del) as the cause of hearing loss in this family. As the same mutation had been reported in a large Chinese family segregating DFNA5 hearing loss, we compared their DFNA5 mutation-linked haplotype with that of the Korean family. We found a conserved haplotype, suggesting that the 3-bp deletion is derived from a single origin in these families. Our observation raises the possibility that this mutation may be a common cause of autosomal dominant progressive hearing loss in East Asians.
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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.