A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss

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dc.contributor.authorSineni, Claire J.
dc.contributor.authorYildirim-Baylan, Muzeyyen
dc.contributor.authorGuo, Shengru
dc.contributor.authorCamarena, Vladimir
dc.contributor.authorWang, Gaofeng
dc.contributor.authorTokgoz-Yilmaz, Suna
dc.contributor.authorDuman, Duygu
dc.date.accessioned2024-04-24T16:01:54Z
dc.date.available2024-04-24T16:01:54Z
dc.date.issued2019
dc.departmentDicle Üniversitesien_US
dc.description.abstractWhile 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.en_US
dc.description.sponsorshipNational Institutes of Health [R01DC009645, R01DC012836]en_US
dc.description.sponsorshipThe study was funded by the National Institutes of Health grants R01DC009645 and R01DC012836 to MT.en_US
dc.identifier.doi10.1007/s00439-019-02037-1
dc.identifier.endpage1075en_US
dc.identifier.issn0340-6717
dc.identifier.issn1432-1203
dc.identifier.issue10en_US
dc.identifier.pmid31175426
dc.identifier.scopus2-s2.0-85067283432
dc.identifier.scopusqualityQ1
dc.identifier.startpage1071en_US
dc.identifier.urihttps://doi.org/10.1007/s00439-019-02037-1
dc.identifier.urihttps://hdl.handle.net/11468/14480
dc.identifier.volume138en_US
dc.identifier.wosWOS:000485936200001
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofHuman Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subject[No Keyword]en_US
dc.titleA truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing lossen_US
dc.titleA truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss
dc.typeArticleen_US

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