A case of auditory neuropathy revealed by OTOF gene mutation analysis in a junior high school girl-中国期刊网

摘要 Objective:Congenitalauditoryneuropathy(AN)affectshearingandspeechdevelopment.ThedegreeofhearingdifficultyincongenitalANvariesasafunctionofpathologyattheinnerearhaircell(IHC)synapsesortheauditorynerve.WereportacaseofaChinesegirlwithANrevealedbyOTOF(otoferlin)genemutationanalysiswhohadonlyamildhearingloss.Patient:A13-year-oldChinesegirlwasdiagnosedashavingcongenitalANonthebasisofOTOFgenemutationanalysis.Shemanifestamildsensorineuralhearinglosswith50%maximummonosyllablespeechdiscriminationrate,normalDPOAEs(distortionproductotoacousticemissions)beyondambientnoiselevels,onlySPs(summatingpotentials)evokedduringECoG(electrocochleography)andabsentABRs(auditoryevokedbrainstemresponses)bilaterallytoclickspresentedat100dBnHL.Shewasabletoeffectivelycommunicatewithothersbyspeechreadingowingtohermildhearingloss.Moreover,bilateralhearingaidshelpedhertocommunicate.Conclusions:OurpatientwasdemonstratedtohaveamutationontheOTOFgene.Nevertheless,shewasabletocommunicateusingauditoryvisualspeechreadinginspiteofamildauditorythresholdelevationprobablyduetopartialpathologyattheIHCsynapsesorintheauditorynerve.

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A case of auditory neuropathy revealed by OTOF gene mutation analysis in a junior high school girl

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A case of auditory neuropathy revealed by OTOF gene mutation analysis in a junior high school girl

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