ArticleHuman genetics2019
A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss.
Article in Human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 23 citations in OpenAlex.
- Complete omission of exon 21 from Slc12a2 transcripts in mice results in hearing loss.Scientific reports · 2025Article
- The single-cell transcriptomic landscape of the topological differences in mammalian auditory receptors.Science China. Life sciences · 2024Article
- Claudin 1, 4, 6 and 18 isoform 2 as targets for the treatment of cancer (Review).International journal of molecular medicine · 2024Review
- Biophysics of claudin proteins in tight junction architecture: Three decades of progress.Biophysical journal · 2024Review
- Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse.EMBO molecular medicine · 2023Article
- Recurrent de novo mutations in CLDN5 induce an anion-selective blood-brain barrier and alternating hemiplegia.Brain : a journal of neurology · 2022Article
- ARNSHL gene identification: past, present and future.Molecular genetics and genomics : MGG · 2022Review
- Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future.Human genetics · 2022Review
- Multiscale modelling of claudin-based assemblies: A magnifying glass for novel structures of biological interfaces.Computational and structural biotechnology journal · 2022Review
- Claudin-9 constitutes tight junctions of folliculo-stellate cells in the anterior pituitary gland.Scientific reports · 2021Article
- Variants of human CLDN9 cause mild to profound hearing loss.Human mutation · 2021Article
- Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies.Genes · 2021Article
- Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss.Hearing research · 2020Article
- Review
- Claudin-1, A Double-Edged Sword in Cancer.International journal of molecular sciences · 2020Review
- Mouse Models of Human Claudin-Associated Disorders: Benefits and Limitations.International journal of molecular sciences · 2019Review
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
While the importance of tight junctions in hearing is well established, the role of Claudin- 9 (CLDN9), a tight junction protein, in human hearing and deafness has not been explored. Through whole-genome sequencing, we identified a one base pair deletion (c.86delT) in CLDN9 in a consanguineous family from Turkey with autosomal recessive nonsyndromic hearing loss. Three affected members of the family had sensorineural hearing loss (SNHL) ranging from moderate to profound in severity. The variant is predicted to cause a frameshift and produce a truncated protein (p.Leu29ArgfsTer4) in this single-exon gene. It is absent in public databases as well as in over 1000 Turkish individuals, and co-segregates with SNHL in the family. Our in vitro studies demonstrate that the mutant protein does not localize to cell membrane as demonstrated for the wild-type protein. Mice-lacking Cldn9 have been shown to develop SNHL. We conclude that CLDN9 is essential for proper audition in humans and its disruption leads to SNHL in humans.
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