摘要
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.
出版日期
2013年01月11日（中国期刊网平台首次上网日期，不代表论文的发表时间）
