Screening of MITF and SOX10 Regulatory Regions in Waardenburg Syndrome Type 2 英文参考文献.docVIP

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Screening of MITF and SOX10 Regulatory Regions in Waardenburg Syndrome Type 2 英文参考文献.doc

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Screening of MITF and SOX10 Regulatory Regions in Waardenburg Syndrome Type 2 英文参考文献

ScreeningofMITFandSOX10RegulatoryRegionsin WaardenburgSyndromeType2 VivianeBaral1,2,AsmaChaoui1,2,YuliWatanabe1,2,MichelGoossens1,2,3,TaniaAttie-Bitach4, SandrineMarlin5,VeroniquePingault1,2,3,NadegeBondurand1,2 * 1INSERM,U955,equipe11,Cre′teil, France,2Universite′ ParisEst,Faculte′ deMe′decine,Cre′teil,France,3AP-HP,Ho?pitalH.Mondor-A.Chenevier,Servicedebiochimieet ge′ne′tique,Cre′teil,France,4INSERMU781,Universite′ParisDescartes,Ho?pitalNecker-EnfantsMalades,Paris,France,5ServicedeGe′ne′tique,Centredere′fe′rence?Surdite′s ge′ne′tiques?,INSERMU587,Ho?pitalArmandTrousseau,APHP,Paris,France Abstract Waardenburg syndrome (WS) is a rare auditory-pigmentary disorder that exhibits varying combinations of sensorineural hearinglossandpigmentationdefects.Foursubtypesareclinicallydefinedbasedonthepresenceorabsenceofadditional symptoms.WStype2(WS2)canresultfrommutationswithintheMITForSOX10genes;however,70%ofWS2casesremain unexplainedatthemolecularlevel,suggestingthatothergenesmightbeinvolvedand/orthatmutationswithintheknown genes escaped previous screenings. The recent identification of a deletion encompassing three of the SOX10 regulatory elementsinapatientpresentingwithanotherWSsubtype,WS4,definedbyitsassociationwithHirschsprungdisease,ledus to search for deletions and point mutations within the MITF and SOX10 regulatory elements in 28 yet unexplained WS2 cases.Twonucleotidevariationswereidentified:oneincloseproximitytotheMITFdistalenhancer(MDE)andonewithin the U1 SOX10 enhancer. Functional analyses argued against a pathogenic effect of these variations, suggesting that mutationswithinregulatoryelementsofWSgenesarenotamajorcauseofthisneurocristopathy. Citation:BaralV,ChaouiA,WatanabeY,GoossensM,Attie-BitachT,etal.(2012)ScreeningofMITFandSOX10RegulatoryRegionsinWaardenburgSyndrome Type2.PLoSONE7(7):e41927.doi:10.1371/journal.pone.0041927 Editor:AndreasR.Janecke,InnsbruckMedicalUniversity,Austria ReceivedMarch29,2012;AcceptedJune29,2012;PublishedJuly27,2012 Copyright: ? 2