Novel EYA1 variants causing Branchio-oto-renal syndrome

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dc.authoridKlingbeil, Kyle D/0000-0002-4359-5556
dc.authoridduman, duygu/0000-0001-7583-0349
dc.authoridPANEQUE, ARIANNE LLAMOS/0000-0002-7161-1787
dc.authoridGürkan, Hakan/0000-0002-8967-6124
dc.authoridParedes, Rosario/0000-0003-4438-5603
dc.authoridDemir, Selma/0000-0002-0964-5513
dc.authoridBademci, Guney/0000-0002-4052-8833
dc.authorwosidArslan, Selçuk/AAW-8461-2021
dc.authorwosidKlingbeil, Kyle D/N-9581-2017
dc.authorwosidDuman, Duygu/AAG-7765-2019
dc.authorwosidTekin, Mustafa/ABG-7627-2020
dc.authorwosidErgin, Filiz Basak/JEP-6180-2023
dc.authorwosidduman, duygu/AAF-8093-2020
dc.authorwosidPANEQUE, ARIANNE LLAMOS/AAI-6178-2020
dc.contributor.authorKlingbeil, Kyle D.
dc.contributor.authorGreenland, Christopher M.
dc.contributor.authorArsIan, Selcuk
dc.contributor.authorPaneque, Arianne Llamos
dc.contributor.authorGurkan, Hakan
dc.contributor.authorUlusal, Selma Demir
dc.contributor.authorMaroofian, Reza
dc.date.accessioned2024-06-12T10:55:09Z
dc.date.available2024-06-12T10:55:09Z
dc.date.issued2017
dc.departmentTrakya Üniversitesien_US
dc.description.abstractIntroduction: Branchio-oto-renal (BOR) syndrome is an autosomal dominant genetic disorder characterized by second branchial arch anomalies, hearing impairment, and renal malformations. Pathogenic mutations have been discovered in several genes such as EYA1, SIX5, and SIXI. However, nearly half of those affected reveal no pathogenic variant by traditional genetic testing. Methods and materials: Whole Exome sequencing and/or Sanger sequencing performed in 10 unrelated families from Turkey, Iran, Ecuador, and USA with BOR syndrome in this study. Results: We identified causative DNA variants in six families including novel c.525delT, c.979T > C, and c.1768deIG and a previously reported c.1779A > T variants in EYA1. Two large heterozygous deletions involving EYA1 were detected in additional two families. Whole exome sequencing did not reveal a causative variant in the remaining four families. Conclusions: A variety of DNA changes including large deletions underlie BOR syndrome in different populations, which can be detected with comprehensive genetic testing. (C) 2017 Elsevier B.V. All rights reserved.en_US
dc.description.sponsorshipJohn T. and Winifred M. Hayward Foundation; National Institutes of Health [R01DC009645, R01DC012836]en_US
dc.description.sponsorshipWe would like to thank the patients and families for their donations. This work was supported by John T. and Winifred M. Hayward Foundation and National Institutes of Health grant R01DC009645 and R01DC012836 to M.T.en_US
dc.identifier.doi10.1016/j.ijporl.2017.04.037
dc.identifier.endpage63en_US
dc.identifier.issn0165-5876
dc.identifier.issn1872-8464
dc.identifier.pmid28583505en_US
dc.identifier.scopus2-s2.0-85018397326en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage59en_US
dc.identifier.urihttps://doi.org/10.1016/j.ijporl.2017.04.037
dc.identifier.urihttps://hdl.handle.net/20.500.14551/19308
dc.identifier.volume98en_US
dc.identifier.wosWOS:000404501500012en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherElsevier Ireland Ltden_US
dc.relation.ispartofInternational Journal Of Pediatric Otorhinolaryngologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectBranchiootorenal Syndromeen_US
dc.subjectEYA1en_US
dc.subjectBranchial Arch Anomaliesen_US
dc.subjectHearing Lossen_US
dc.subjectWhole Exome Sequencingen_US
dc.subjectBor Syndromeen_US
dc.subjectHearing-Lossen_US
dc.subjectChromosome 8qen_US
dc.subjectGeneen_US
dc.subjectLocalizationen_US
dc.subjectDiseaseen_US
dc.subjectLinkageen_US
dc.subjectFamilyen_US
dc.subjectRegionen_US
dc.subjectEaren_US
dc.titleNovel EYA1 variants causing Branchio-oto-renal syndromeen_US
dc.typeArticleen_US

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