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简介：Geneticdefectsareoneofthemostimportantetiologiesofseveretoprofoundsensorineuralhearinglossandplayanimportantroleindeterminingcochlearimplantationoutcomes.Whilethepathogenicmutationtypesofanumberofdeafnessgeneshavebeencloned,thepathogenesismechanismsandtheirrelationshiptotheoutcomesofcochlearimplantationremainahotresearcharea.Theauditoryperformanceisconsideredtobeaffectedbytheetiologyofhearinglossandthenumberofsurvivingspiralganglioncells,aswellasothers.Currentresearchadvancesincochlearimplantationforhereditarydeafness,especiallytherelationshipamongclinic-types,genotypesandoutcomesofcochlearimplantation,willbediscussedinthisreview.

简介：Eachcomponentofthehumanearperformsaspecificfunctioninhearing.Theactualprocessofsoundtransductiontakesplaceintheauditoryportionoftheinnerear,thefluid-filledcochlea.Inthecochlea,thesensitivityandefficiencyofsensoryapparatustoconvertmechanicalenergyintoneuralactivity,largelydependsonthefluidicandionicenvironment.Inthelateralwallofcochlea,thesecretoryepitheliumstriavascularisplaysanimportantroleinthemaintenanceoffluidicandionichomeostasis.Avarietyofgenemutationsdisturbsthecochlearhomeostasisandsubsequentlyleadstohearingimpairment.Thereviewcoversseveralaspectsofcochlearhomeostasis,fromcochlearfluidandthefunctionalroleofstriavascularis,cochlearK+recyclinganditsmolecularsubstratestogeneticdeafnesswithabnormalcochlearhomeostasis.

简介：ObjectiveTounderstandthegeneticloadintheChinesepopulationforimprovementindiagnosis,preventionandrehabilitationofdeafness.MethodsDNAsamples,immortalizedcelllinesaswellasdetailedclinicalandaudiometricdatawerecollectedthroughanationalgeneticresourcescollectingnetwork.Twoconventionalgeneticapproacheswereusedinthestudies.LinkageanalysisinXchromosomeandautosomeswithmicrosatellitemarkerswereperformedinlargefamiliesforgenemappingandpositionalcloningofnovelgenes.CandidategeneapproachwasusedforscreeningthemtDNA12SrRNA,GJB2andSLC26A4mutationsinpopulation-basedsamples.ResultsAtotalof2,572Chinesehearinglossfamiliesorsporadiccaseswerecharacterizedinthereportedstudies,includingsevenX-linked,oneY-linked,28largeandmultiplexautosomaldominanthearinglossfamilies,607simplexautosomalrecessivehereditaryhearinglossfamilies,100mitochondrialinheritancefamilies,147GJB2inducedhearinglosscases,230caseswithenlargedvestibularaqueduct(EVA)syndrome,169sporadiccaseswithauditoryneuropathy,and1,283sporadicsensorineuralhearinglosscases.Throughlinkageanalysisorsequenceanalysis,twoX-linkedfamilieswerefoundtransmittingtwonovelmutationsinthePOU3F4gene,whileanotherX-linkedfamilywasmappedontoanovellocus,nominatedasAUNX1(auditoryneuropathy,X-linkedlocus1).TheonlyY-linkedfamilywasmappedontotheDFNY1locus(Y-linkedlocus1,DFNY1).Eightofthe28autosomaldominantfamilieswerelinkedtovariousautosomalloci.Inpopulationgeneticsstudies,2,567familialcasesandsporadicpatientsweresubjectedtomutationscreeningforthreecommonhearinglossgenes:mtDNA12SrRNA1555G,GJB2andSLC26A4.TheauditoryneuropathycasesinoursampleswerescreenedforOTOFgenemutations.ConclusionsThesedatashowthattheChinesepopulationhasageneticloadonhereditaryhearingloss.Establishingpersonalizedsurveillanceandpreventionmodelsforhearing

简介：ObjectiveThestudyistoidentifythecarrierrateofcommondeafnessmutationinChinesepregnantwomenviadetectingdeafnessgenemutationswithgenechip.MethodsThepregnantwomeninobstetricclinicwithouthearingimpairmentandhearingdisordersfamilyhistorywereselected.Theinformedconsentwassigned.PeripheralbloodwastakentoextractgenomicDNA.Applicationofgeneticdeafnessgenechipfordetecting9mutationalhotspotofthemostcommon4Chinesedeafnessgenes,namelyGJB2(35delG,176del16bp,235delC,299delAT),GJB3(C538T),SLC26A4(IVS72A>G,A2168G)andmitochondrialDNA12SrRNA(A1555G,C1494T).Furthergenetictestingwereprovidedtothespousesandnewbornsofthescreenedcarriers.ResultsPeripheralbloodof430pregnantwomenweredetected,detectionofdeafnessgenemutationcarriersin24cases(4.2%),including13casesoftheGJB2heterozygousmutation,3casesofSLC26A4heterozygousmutation,1casesofGJB3heterozygousmutation,and1caseofmitochondrial12SrRNAmutation.18spousesand17newbornstookfurthergenetictests,and6newbornsinheritedthemutationfromtheirmother.ConclusionThecommondeafnessgenesmutationhasahighcarrierrateinpregnantwomengroup,235delCandIVS7-2A>Gheterozygousmutationsarecommon.

简介：Hearingloss(HL)isthemostcommonsensorydisorder,affectingallagegroups,ethnicities,andgen-ders.AccordingtoWorldHealthOrganization(WHO)estimatesin2005,278millionpeopleworldwidehavemoderatetoprofoundHLinbothears.Resultsofthe2002NationalHealthInterviewSurveyindicatethatnearly31millionofallnon-institutionalizedadults(aged18andover)intheUnitedStateshavetroublehearing.Epidemiologicalstudieshaveestimatedthatapproximately50%ofprofoundHLcanbeattributedtogeneticcauses.Withover60genesimplicatedinnonsyndromichearingloss,itisalsoanextremelyhet-erogeneoustrait.Recentprogressinidentifyinggenesresponsibleforhearinglossenablesotolaryngologistsandotherclinicianstoapplymoleculardiagnosisbygenetictesting.Theadventofthe$1000genomehasthepotentialtorevolutionizetheidentificationofgenesandtheirmutationsunderlyinggeneticdisorders.ThisisespeciallytrueforextremelyheterogeneousMendelianconditionssuchasdeafness,wherethemuta-tion,andindeedthegene,maybeprivate.Therecenttechnologicaladvancesintarget-enrichmentmethodsandnextgenerationsequencingofferauniqueopportunitytobreakthroughthebarriersoflimitationsim-posedbygenearrays.Theseapproachesnowallowforthecompleteanalysisofallknowndeafness-causinggenesandwillresultinanewwaveofdiscoveriesoftheremaininggenesforMendeliandisorders.Thisre-viewfocusesondescribinggenotype-phenotypecorrelationsofthemostfrequentgenesincludingGJB2,whichisresponsibleformorethanhalfofcases,followedbyothercommongenesandondiscussingtheim-pactofgenomicadvancesforcomprehensivegenetictestingandgenediscoveryinhereditaryhearingloss.

简介：Thewaltzingguineapigmaybeagoodmodeltoinvestigateifgeneticfactorcanchangethesensitivityinnoise-inducedhearingloss.Atotalof34waltzigguineapigswerestudiedandwefoundthatthereisnoanysignificantincreasedsensitivitytonoisetraumaiftheage-inducedhearinglosswasconsideredinwaltz-ingguineapig.