Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease Functional Characterization of 9 Novel Sequence Variants 英文参考文献.docVIP

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Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease Functional Characterization of 9 Novel Sequence Variants 英文参考文献.doc

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Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease Functional Characterization of 9 Novel Sequence Variants 英文参考文献

SequenceandCopyNumberAnalysesofHEXBGenein PatientsAffectedbySandhoffDisease:Functional Characterizationof9NovelSequenceVariants StefaniaZampieri1,SilviaCattarossi1,AnaMariaOllerRamirez2,CamilloRosano3 ,Charles MarquesLourenco4,NadiaPasson5,IsabellaMoroni6,GraziellaUziel6,AntonellaPettinari7, FrancoStanzial8,RaquelDodelsondeKremer2,NydiaBeatrizAzar2,FilizHazan9,MirellaFilocamo10, BrunoBembi1,AndreaDardis1* 1RegionalCoordinatorCenterforRareDiseases,UniversityHospitalSantaMariadellaMisericordia,Udine,Italy,2CentrodeEstudiodelasMetabolopatiasConge′nitas, CEMECO, University of Co′rdoba, Co′rdoba, Argentine, 3Patologia Molecolare Integrata – A.O.U. IRCSS San Martino – IST, Istituto Nazionale per la Ricerca sul Cancro, Genova,Italy,4MedicalGeneticsService,ClinicsHospitalofRibeiraoPreto,UniversityofSaoPaulo,SaoPaulo,Brazil,5DipartimentodiScienzeMedicheeBiologiche, Universita`diUdine,Udine,Italy,6DepartmentofChildNeurology,FondazioneIstitutoNeurologicoBesta,Milan,Italy,7LaboratoriodiGeneticaMedica,ClinicaPediatrica, OspedaliRiunitiAncona,Ancona,Italy,8ServiziodiConsulenzaGenetica,CentroProvincialediCoordinamentodellaRetedelleMalattieRare,AziendaSanitariadell’Alto- Adige, Bolzano, Italy, 9Medical Faculty, Genetic Department, Izmir, Turkey, 10U.O.S.D. Laboratorio Diagnosi Pre-Postnatale Malattie Metaboliche, Istituto G. Gaslini, Genova,Italy Abstract Sandhoffdisease(SD)isalysosomaldisordercausedbymutationsintheHEXBgene.Todate,43mutationsofHEXBhave been described, including 3 large deletions. Here, we have characterized 14 unrelated SD patients and developed a MultiplexLigation-dependentProbeAmplification(MLPA)assaytoinvestigatethepresenceoflargeHEXBdeletions.Overall, weidentified16alleles,9ofwhichwerenovel,including4sequencevariationleadingtoaminoacidchanges[c.626C.T (p.T209I), c.634C.A (p.H212N), c.926G.T (p.C309F), c.1451G.A (p.G484E)] 3 intronic mutations (c.1082+5G.A, c.1242+1G.A, c.1169+5G.A), 1 nonsense mutation c.146C.A (p.S49X) and 1 small in-frame deletion c.1260_