Nature等顶级期刊报导腓骨肌萎缩症最

tle:MORC2mutationsinacohortofChinesepatientswithCharcot-Marie-Toothdiseasetype2.

Authors:ZhaoX,LiX,HuZetal.

Journal:n21.

Abstract

loftheprobandshadunderwentsequencecapturearrayof35CMTgenesincluding19CMT2genes(MFN2,MPZ,HSPB1,HSPB8,RAB7A,TRPV4,GARS,NEFL,GDAP1,DNM2,AARS,DYNC1H1,LRSAM1,DHTKD1,DNAJB2,MARS,LMNA,MED25,TRIM2)andoneCMT1Xgene(GJB1),andlessthan40%(),(),(),()().wereabsentinthedbSNP,HapMap8,eywerepredictedtobedisease-causingbySIFT,waspresentinallaffectedindividuals(SubjectsIII-5,III-6and…

tle:Clinico-geicsinKoreanCharcot-Marie-Toothdiseasetype2ZwithMORC2mutations.

Authors:HyunYS,HongYB,ChoiBOetal.

Journal:l;(Pt7):e40.

Abstract

Thewhole-exomesequencingdataforunrelatedKoreanCMT2familieswhowereexcludedfora17p12duplication/deletion,revealedthreeMORC2mutationsinfourfamiliesastheunderlyingcause:inonefamilyeach(Fig.1AandSupplementaryTable1).ThemutationswereconfirmedbySangersequencing(Fig.1B).ThesemutationswereabsentintheKoreancontrolsubjects(n=)andglobaldatabases,suchasthedbSNP,GenomesProject,theExomeSequencingProject,ethreemutationswerelocatedinthehighlyconservedhistidinekinase-likeATPase(HATPase)domainornearthatregion(Fig.1C).Thep.R70Lwasanunreportedmutation,werethesamemutations,whichwerereportedbySevillaetal.().Ifthe