遗传性低频听力减退的基因学研究进展
刘穹;王荣光;杨伟炎;王秋菊
1:解放军总医院耳鼻咽喉-头颈外科
2:解放军总医院耳鼻咽喉-头颈外科
3:解放军总医院耳鼻咽喉-头颈外科
4:解放军总医院耳鼻咽喉-头颈外科 解放军耳鼻咽喉研究所
1 LynchED ,LeeNK ,MorrowJE ,etal.NonsyndromicdeafnessDFNA1associatedwithmutationofahumanhomologoftheDrosophilagenedi aphanous[J].Science,1997,278:1315.
2 LeonPE ,BonillaJA ,SanchezJR ,etal.Lowfrequencyhereditarydeaf nessinmanwithchildhoodonset[J].AmJHumGenet,1981,33:209.
3 LeonPE ,RaventosH ,LynchE ,etal.Thegeneforaninheritedformofdeafnessmapstochromosome5q31[J].ProcNatlAcadSciUSA ,1992,89:5181.
4 BespalovaIN ,VanCampG ,BomSJ ,etal.MutationsintheWolframsyndrome1gene(WFS1)areacommoncauseoflowfrequencysenso rineuralhearingloss[J].HumMolGenet,2001,10:2501.
5 YoungTL ,IvesE ,LynchE ,etal.Non-syndromicprogressivehearinglossDFNA38iscausedbyheterozygousmissensemutationintheWolfr amsyndromegeneWFS1[J].HumMolGenet,2001,10:2509.
6 VanCampG ,KunstH ,FlothmannK ,etal.Ageneforautosomaldominanthearingimpairment(DFNA14)mapstoaregiononchromo some4p16.3thatdoesnotoverlaptheDFNA6locus[J].JMedGen et,1999,36:532.
7 KonigsmarkBW ,MengelM ,BerlinCI,etal.Familiallowfrequencyhearingloss[J].Laryngoscope,1971,81:759.
8 KomatsuK ,NakamuraN ,GhadamiM ,etal.Confirmationofgenetichomogeneityofnonsyndromiclow-frequencysensorineuralhearinglossbylinkageanalysisandaDFNA614mutationinaJapanesefamily[J].JHumGenet,2002,47:395.
9 LesperanceMM ,Hall,3rdJW ,BessFH ,etal.Ageneforautosomaldominantnonsyndromichereditaryhearingimpairmentmapsto4p16.3[J].HumMolGenet,1995.4(10):1967.
10 BrodwolfS ,BoddekerIR ,ZieglerA ,etal.Furtherevidenceforlink ageoflow-midfrequencyhearingimpairmenttothecandidateregiononchromosome4p16.3[J].ClinGenet,2001,60(2):155.
11 GunnT ,BortolussiR ,LittleJM ,etal.Juvenilediabetesmellitus,op ticatrophy,sensorynervedeafness,anddiabetesinsipidus-asyn drome[J].JPediatr,1976,89:565.
12 FraserFC ,LingD ,CloggD ,etal.GeneticaspectsoftheBORsyn drome--branchialfistulas,earpits,hearingloss,andrenalanom alies[J].AmJMedGenet,1978,2:241.
13 BarrettTG ,BundeySE ,MacleodAF ,etal.Neurodegenerationanddiabetes:UKnationwidestudyofWolfram(DIDMOAD)syndrome[J].Lancet,1995,346:1458.
14 Hernandez-MijaresA ,MorillasC ,Lluch,etal.PartialWolframsyn drome(DIDMOAD):twonewpatientsinafamily.Diabetesinsipi dus,diabetesmellitus,opticatrophy,anddeafness[J].DiabeteCare,1999,22:1378.
15 KinsleyBT ,SwiftM ,DumontRH ,etal.MorbidityandmortalityintheWolframsyndrome[J].DiabetesCare,1995,18:1566.
16 MtandaAT ,CruysbergJR ,PinckersAJ,etal.OpticatrophyinWolfr amsyndrome[J].OphthalmicPaediatrGenet,1986,7:159.
17 GabreelsBA ,SwaabDF ,deKlejjnDP ,etal.Thevasopressinprecur sorisnotprocessedinthehypothalamusofWolframsyndromepatientswithdiabetesinsipidus:evidencefortheinvolvementofPC2and7B2[J].JClinEndocrinolMetab,1998,83:4026.
18 BlasiC ,PierelliF ,RispoliE ,etal.Wolfram’ssyndrome:aclinical,diagnostic,andinterpretativecontribution[J].DiabetesCare,1986,9:521.
19 ScoldingNJ ,Kellar-WoodHF ,ShawC ,etal.Wolframsyndrome:hereditarydiabetesmellituswithbrainstemandopticatrophy[J].AnnNeurol,1996,39:352.
20 ShannonP ,BeckerL ,DeckJ ,etal.EvidenceofwidespreadaxonalpathologyinWolframsyndrome[J].ActaNeuropathol(Berl),1999,98:304.
21 StromTM ,HortnagelK ,HofmannS ,etal.Diabetesinsipidus,diabe tesmellitus,opticatrophyanddeafness(DIDMOAD)causedbymu tationsinanovelgene(wolframin)codingforapredictedtransmem braneprotein[J].HumMolGenet,1998,7:2021.
22 InoueH ,TanizawaY ,WassonJ,etal.Ageneencodingatransmem braneproteinismutatedinpatientswithdiabetesmellitusandopticatrophy(Wolframsyndrome)[J].NatGenet,1998,20:143.
23 TakedaK ,InoueH ,TanizawaY ,etal.WFS1(Wolframsyndrome1)geneproduct:predominantsubcellularlocalizationtoendoplasmicreticuluminculturedcellsandneuronalexpressioninratbrain[J].HumMolGenet,2001,10:477.
24 HardyC ,KhanimF ,TorresR ,etal.Clinicalandmoleculargeneticanalysisof19Wolframsyndromekindredsdemonstratingawidespec trumofmutationsinWFS1[J].AmJHumGenet,1999,65:1279.
25 CrynsK ,PfisterM ,PenningsRJ,etal.MutationsintheWFS1genethatcauselow-frequencysensorineuralhearinglossaresmallnon-inactivatingmutations[J].HumGenet,2002,110:389.
26 KhanimF ,KirkJ,LatifF ,etal.WFS1 wolframinmutations,Wolframsyndrome,andasso