PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort 英文参考文献.docVIP

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PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort 英文参考文献.doc

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PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort 英文参考文献

PRRT2MutationsinParoxysmalKinesigenicDyskinesia withInfantileConvulsionsinaTaiwaneseCohort Yi-ChungLee1,2,3*.,Ming-JenLee4,Hsiang-YuYu1,2,ChienChen1,2,Chang-HungHsu5,Kon-PingLin1,2, Kwong-KumLiao1,2,Ming-HongChang2,6,Yi-ChuLiao2,6,Bing-WenSoong 1,2,3 . * 1Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan, 2Department of Neurology, National Yang-Ming University School of Medicine, Taipei, Taiwan, 3Brain Research Center, National Yang-Ming University School of Medicine, Taipei, Taiwan, 4Department of Neurology, National Taiwan University Hospital, Taipei,Taiwan,5DepartmentofNeurology,Tri-ServiceGeneralHospital,Taipei,Taiwan,6SectionofNeurology,TaichungVeteransGeneralHospital,Taichung,Taiwan Abstract Background: MutationsinthePRRT2genehaverecentlybeenidentifiedinpatientswithfamilialparoxysmalkinesigenic dyskinesia with infantile convulsions (PKD/IC) and patients with sporadic PKD/IC from several ethnic groups. To extend these recent genetic reports, we investigated the frequency and identities of PRRT2 mutations in a cohort of Taiwanese patientswithPKD/IC. MethodologyandPrincipalFindings:Wescreenedall3codingexonsofPRRT2formutationsin28Taiwanesepatientswith PKD/IC.Amongthem,13hadfamilialPKD/ICand15wereapparentlysporadiccases.Intotal,7disparatemutationswere identifiedin13patients,including8familialcasesand5apparentlysporadiccases.Themutationswerenotpresentin500 healthy controls. Four mutations were novel. One patient had a missense mutation and all other patients carried PRRT2 mutationsputativelyresultinginaproteintruncation.Haplotypeanalysisrevealedthat5ofthe7patientswiththePRRT2 p.R217Pfs*8mutationsharedthesamehaplotypelinkedtothemutation. ConclusionsandSignificance:PRRT2mutationsaccountfor61.5%(8outof13)offamilialPKD/ICand33.3%(5outof15)of apparentlysporadicPKD/ICintheTaiwanesecohort.MostpatientswiththePRRT2p.R217Pfs*8mutationinTaiwanlikely descend from a single common ancestor. This study expands the spectrum of PKD/IC-associated PRRT2 mu