ArticleChinese medical journal2015
IVS8+1 DelG, a Novel Splice Site Mutation Causing DFNA5 Deafness in a Chinese Family.
Article in Chinese medical journal, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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21 citing papers in PubMed, 28 citations in OpenAlex.
- Pyroptosis in endometritis: Molecular mechanisms, pathogenic roles, and therapeutic opportunities.iScience · 2026Review
- Unraveling the Functional Impact of Splicing Variants in Inherited Hearing Disorders Through Minigene Splicing Assays.Biomedicines · 2025Article
- 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
- Alternative splicing in shaping the molecular landscape of the cochlea.Frontiers in cell and developmental biology · 2023Review
- A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.BMC medical genomics · 2022Article
- AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss.Human genetics · 2022Article
- Identification of the First SingleDiagnostics (Basel, Switzerland) · 2022Article
- Modulation of Autoimmune and Autoinflammatory Diseases by Gasdermins.Frontiers in immunology · 2022Review
- Gasdermins in Innate Host Defense AgainstFrontiers in immunology · 2022Review
- Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.PloS one · 2022Article
- Pyroptosis in Cancer: Friend or Foe?Cancers · 2021Review
- Channelling inflammation: gasdermins in physiology and disease.Nature reviews. Drug discovery · 2021Review
- Mini-Review: GSDME-Mediated Pyroptosis in Diabetic Nephropathy.Frontiers in pharmacology · 2021Review
- Article
- Case Report: Novel HeterozygousFrontiers in genetics · 2020Article
- The deafness gene GSDME: its involvement in cell apoptosis, secondary necrosis, and cancers.Naunyn-Schmiedeberg's archives of pharmacology · 2019Review
- Further evidence for "gain-of-function" mechanism of DFNA5 related hearing loss.Scientific reports · 2018Article
- Exonic mutations and exon skipping: Lessons learned from DFNA5.Human mutation · 2018Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNonsyndromic hearing loss (NSHL) is highly heterogeneous, in which more than 90 causative genes have currently been identified. DFNA5 is one of the deafness genes that known to cause autosomal dominant NSHL. Until date, only five DFNA5 mutations have been described in eight families worldwide. In this study, we reported the identification of a novel pathogenic mutation causing DFNA5 deafness in a five-generation Chinese family.
methodsAfter detailed clinical evaluations of this family, the genomic DNA of three affected individuals was selected for targeted exome sequencing of 101 known deafness genes, as well as mitochondrial DNA and microRNA regions. Co-segregation analysis between the hearing loss and the candidate variant was confirmed in available family members by direct polymerase chain reaction (PCR)-Sanger sequencing. Real-time PCR (RT-PCR) was performed to investigate the potential effect of the pathogenic mutation on messenger RNA splicing.
resultsClinical evaluations revealed a similar deafness phenotype in this family to that of previously reported DFNA5 families with autosomal dominant, late-onset hearing loss. Molecular analysis identified a novel splice site mutation in DFNA5 intron 8 (IVS8+1 delG). The mutation segregated with the hearing loss of the family and was absent in 120 unrelated control DNA samples of Chinese origin. RT-PCR showed skipping of exon 8 in the mutant transcript.
conclusionsWe identified a novel DFNA5 mutation IVS8+1 delG in a Chinese family which led to skipping of exon 8. This is the sixth DFNA5 mutation relates to hearing loss and the second one in DFNA5 intron 8. Our findings provide further support to the hypothesis that the DFNA5-associated hearing loss represents a mechanism of gain-of-function.
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