研究报告患者中两种新突变文稿.pdfVIP

JournalofthePeripheralNervousSystem18:256–260(2013)

RESEARCHREPORT

TwonovelMPZmutationshineseCMTpatients

111111

LeiLiu,Li,XiaohongZi,ShunxiangHuang,YajingZhan,MingmingJiang,

232,31

JifengGuo,KunXia,BeishaTang,andRuxuZhang

1DepartmentofNeurology,theThirdXiangyaHospital;2DepartmentofNeurology,XiangyaHospital;and3NationalKeyLab

ofMedicalGics,CentralSouthUniversity,Changsha,

Toinvestigatethemyelinproteinzero(MPZ)genemutationandrelatedclinical

featureshineseCharcot-Marie-Tooth(CMT)patients,wescreenedthecodingsequence

ofMPZin70unrelatedCMTindexpatientsafterexcludingthePMP22duplication,Cx32

andMFN2mutations.Wefoundfourdifferentmissensemutations:c.194CT,c.242AT,

c.371CT,andc.419CG.ThefrequencyofMPZmutationwasapproximay4.35%of

thetotal,3.08%ofCMT1,and6%ofCMT2.Mutationsc.242ATandc.419CGarenovel.

Themutationc.242ATexhibitedlateonsetandrapidlyprogressiveCMT2phenotype.The

mutationc.419CGexhibitedrelativelylateonsetandslowlyprogressiveCMT1phenotype.

Keywords:clinicalfeatures,CMT,MPZ,mutation

Introduction