Simultaneous Screening of Multiple Mutations by Invader Assay Improves Molecular Diagnosis of Hereditary Hearing Loss A Multicenter Study 英文参考文献.docVIP

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Simultaneous Screening of Multiple Mutations by Invader Assay Improves Molecular Diagnosis of Hereditary Hearing Loss A Multicenter Study 英文参考文献.doc

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Simultaneous Screening of Multiple Mutations by Invader Assay Improves Molecular Diagnosis of Hereditary Hearing Loss A Multicenter Study 英文参考文献

SimultaneousScreeningofMultipleMutationsby InvaderAssayImprovesMolecularDiagnosisof HereditaryHearingLoss:AMulticenterStudy Shin-ichiUsami1*,Shin-yaNishio1,MakotoNagano2,SatokoAbe2,ToshikazuYamaguchi2,theDeafness GeneStudyConsortium 1DepartmentofOtorhinolaryngology,ShinshuUniversitySchoolofMedicine,Asahi,Matsumoto,Japan,2DepartmentofClinicalGenomics,BiomedicalLaboratories,Inc., Matoba,Kawagoe-shi,Saitama,Japan Abstract Althoughetiologicalstudieshaveshowngeneticdisorderstobeacommoncauseofcongenital/early-onsetsensorineural hearingloss,therehavebeennodetailedmulticenterstudiesbasedongenetictesting.Inthepresentreport,264Japanese patientswithbilateralsensorineuralhearinglossfrom33ENTdepartmentsnationwideparticipated.Forthesepatients,we first applied the Invader assay for screening 47 known mutations of 13 known deafness genes, followed by direct sequencing as necessary. A total of 78 (29.5%) subjects had at least one deafness gene mutation. Mutations were more frequently found in the patients with congenital or early-onset hearing loss, i.e., in those with an awareness age of 0–6 years,mutationsweresignificantlyhigher(41.8%)thaninpatientswithanolderageofawareness(16.0%).Amongthe13 genes, mutations in GJB2 and SLC26A4 were mainly found in congenital or early-onset patients, in contrast with mitochondrialmutations(12SrRNAm.1555A.G,tRNA(Leu(UUR))m.3243A.G),whichwerepredominantlyfoundinolder- onsetpatients.ThepresentmethodofsimultaneousscreeningofmultipledeafnessmutationsbyInvaderassayfollowedby directsequencingwillenableustodetectdeafnessmutationsinanefficientandpracticalmannerforclinicaluse. Citation:UsamiS-i,NishioS-y,NaganoM,AbeS,YamaguchiT,etal.(2012)SimultaneousScreeningofMultipleMutationsbyInvaderAssayImprovesMolecular DiagnosisofHereditaryHearingLoss:AMulticenterStudy.PLoSONE7(2):e31276.doi:10.1371/journal.pone.0031276 Editor:FrancescPalau,InstitutodeCienciadeMaterialesdeMadrid-InstitutodeBiomedicinadeValencia,Spain ReceivedJuly21,2011;AcceptedJanuary5,2012;Publis