Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

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dc.contributor.authorBademci, G.
dc.contributor.authorCengiz, F. B.
dc.contributor.authorFoster, J., II
dc.contributor.authorDuman, D.
dc.contributor.authorSennaroglu, L.
dc.contributor.authorDiaz-Horta, O.
dc.contributor.authorAtik, T.
dc.date.accessioned2024-04-24T16:24:04Z
dc.date.available2024-04-24T16:24:04Z
dc.date.issued2016
dc.departmentDicle Üniversitesien_US
dc.description.abstractThe genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high degree of genetic heterogeneity. We analyzed whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative variant in known NSHL genes. We detected five causative variants in different SHL genes (SOX10, MITF, PTPN11, CHD7, and KMT2D) in five (4.9%) probands. Clinical re-evaluation of these probands shows that some of them have subtle syndromic findings, while none of them meets clinical criteria for the diagnosis of the associated syndrome (Waardenburg (SOX10 and MITF), Kallmann (CHD7 and SOX10), Noonan/LEOPARD (PTPN11), CHARGE (CHD7), or Kabuki (KMT2D). This study demonstrates that individuals who are evaluated for NSHL can have pathogenic variants in SHL genes that are not usually considered for etiologic studies.en_US
dc.description.sponsorshipNational Institutes of Health [R01DC009645, R01DC012836]en_US
dc.description.sponsorshipThis work was supported by National Institutes of Health grants R01DC009645 and R01DC012836 to M.T.en_US
dc.identifier.doi10.1038/srep31622
dc.identifier.issn2045-2322
dc.identifier.pmid27562378
dc.identifier.scopus2-s2.0-84984664039
dc.identifier.scopusqualityQ1
dc.identifier.urihttps://doi.org/10.1038/srep31622
dc.identifier.urihttps://hdl.handle.net/11468/16461
dc.identifier.volume6en_US
dc.identifier.wosWOS:000381966900001
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherNature Portfolioen_US
dc.relation.ispartofScientific Reports
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subject[No Keyword]en_US
dc.titleVariations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Lossen_US
dc.titleVariations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss
dc.typeArticleen_US

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