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Variations in multiple syndromic deafness genes mimic non-syndromic hearing loss

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dc.contributor.coauthorBademci, G.
dc.contributor.coauthorCengiz, F. B.
dc.contributor.coauthorFoster, J., II
dc.contributor.coauthorDuman, D.
dc.contributor.coauthorSennaroğlu, L.
dc.contributor.coauthorDiaz-Horta, O.
dc.contributor.coauthorAtik, T.
dc.contributor.coauthorKirazlı, T.
dc.contributor.coauthorOlgun, L.
dc.contributor.coauthorAlper, H.
dc.contributor.coauthorMenendez, I.
dc.contributor.coauthorSennaroğlu, G.
dc.contributor.coauthorTokgöz-Yılmaz, S.
dc.contributor.coauthorGuo, S.
dc.contributor.coauthorOlgun, Y.
dc.contributor.coauthorMahdieh, N.
dc.contributor.coauthorBonyadi, M.
dc.contributor.coauthorBozan, N.
dc.contributor.coauthorAyral, A.
dc.contributor.coauthorÖzkınay, F.
dc.contributor.coauthorYıldırım-Baylan, M.
dc.contributor.coauthorBlanton, S. H.
dc.contributor.coauthorTekin, M.
dc.contributor.kuauthorLoçlar, İlayda
dc.contributor.schoolcollegeinstituteSchool of Medicine
dc.date.accessioned2024-11-09T13:14:41Z
dc.date.issued2016
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.
dc.description.fulltextYES
dc.description.indexedbyWoS
dc.description.indexedbyScopus
dc.description.indexedbyPubMed
dc.description.openaccessYES
dc.description.publisherscopeInternational
dc.description.sponsoredbyTubitakEuN/A
dc.description.sponsorshipNational Institute of Health
dc.description.versionPublisher version
dc.description.volume6
dc.formatpdf
dc.identifier.doi10.1038/srep31622
dc.identifier.eissn2045-2322
dc.identifier.embargoNO
dc.identifier.filenameinventorynoIR00858
dc.identifier.issn2045-2322
dc.identifier.linkhttps://doi.org/10.1038/srep31622
dc.identifier.quartileQ2
dc.identifier.scopus2-s2.0-84984664039
dc.identifier.urihttps://hdl.handle.net/20.500.14288/2984
dc.identifier.wos381966900001
dc.keywordsCopy-number variation
dc.keywordsCharge syndrome
dc.keywordsNoonan syndrome
dc.keywordsPendred-syndrome
dc.keywordsHypertrophic cardiomyopathy
dc.keywordsWaardenburg syndrome
dc.keywordsDiagnostic-criteria
dc.keywordsMutation spectrum
dc.keywordsSlc26a4 mutations
dc.keywordsKallmann-syndrome
dc.languageEnglish
dc.publisherNature Publishing Group (NPG)
dc.relation.grantnoR01DC009645
dc.relation.grantnoR01DC012836
dc.relation.urihttp://cdm21054.contentdm.oclc.org/cdm/ref/collection/IR/id/861
dc.sourceScientific Reports
dc.subjectMultidisciplinary sciences
dc.titleVariations in multiple syndromic deafness genes mimic non-syndromic hearing loss
dc.typeJournal Article
dspace.entity.typePublication
local.contributor.kuauthorLoçlar, İlayda

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