ArticleScientific reports2018
Further evidence for "gain-of-function" mechanism of DFNA5 related hearing loss.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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19 citing papers in PubMed, 26 citations in OpenAlex.
- Unraveling the Functional Impact of Splicing Variants in Inherited Hearing Disorders Through Minigene Splicing Assays.Biomedicines · 2025Article
- [Research status and future strategies for refractory inner ear disease].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2025Review
- Comprehensive sequencing of the genome and transcriptome of the Xishuangbanna game fowl.Scientific data · 2024Article
- Gain-of-function variants in GSDME cause pyroptosis and apoptosis associated with post-lingual hearing loss.Human genetics · 2024Article
- [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
- Rare-variant association analysis reveals known and new age-related hearing loss genes.European journal of human genetics : EJHG · 2023Article
- Gasdermins and pyroptosis in the kidney.Nature reviews. Nephrology · 2023Review
- 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
- 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
- Mini-Review: GSDME-Mediated Pyroptosis in Diabetic Nephropathy.Frontiers in pharmacology · 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
- A novel non-sense variant inFrontiers in neurologyArticle
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Authors and funding
15 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To report two DFNA5 pathogenic splice-site variations and a novel benign frameshift variation to further support the gain-of-function mechanism of DFNA5 related hearing impairment, targeted genes capture and next generation sequencing were performed on selected members from Family 1007208, 1007081 and a sporadic case with sensorineural hearing loss. Reverse transcriptase polymerase chain reaction was conducted on the proband from Family 1007208 to test how the splice-site variation affects the transcription in RNA level. A novel heterozygous splice-site variation c.991-3 C > A in DFNA5 was found in Family 1007208; a known hotspot heterozygous splice-site variation c.991-15_991_13delTTC was identified in Family 1007081. Both the splice-site variations were segregated with the late onset hearing loss phenotype, leading to the skipping of exon 8 at RNA level. In addition, a novel DFNA5 frameshift variation c.116_119delAAAA was found in the sporadic case, but was not segregated with the hearing impairment phenotype. In conclusion, we identified one novel and one known pathogenic DFNA5 splice-site variation in two Chinese Families, as well as a novel DFNA5 frameshift variation c.116_119delAAAA in a sporadic case, which does not the cause for the hearing loss case. Both the two pathogenic splice-site variations and the nonpathogenic frameshift variation provide further support for the specific gain-of-function mechanism of DFNA5 related hearing loss.
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