Article details

Fressart et al. Europace 2010;12:861-8.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSC23G114fsX120c.341delp.Glu114GlyfsX7 0/600 TFC+ Compound heterozygote: G114fsX120 and R132C Mutation details
DSC23R132Cc.394C>Tp.Arg132Cys 0/600 TFC+ Compound heterozygote: G114fsX120 and R132C Mutation details
DSC215G790delc.2368_2370delGGAp.Gly790del 0/600 TFC+   Mutation details
DSC216S868Fc.2603C>Tp.Ser868Phe 0/600 TFC+ Digenic: PKP2 V548fsX562 and DSC2 S868F Mutation details
DSC216A897fsX900c.2686_2687dupGAp.Ala897LysfsX4 5/600 TFC+; n=4 Classified as polymorphism Mutation details
DSG23R46Wc.136C>Tp.Arg46Trp 0/600 TFC+   Mutation details
DSG23R46Qc.137G>Ap.Arg46Gln 0/600 TFC+; n=3 In one patient digenic: PKP2 R811S and DSG2 R46Q Mutation details
DSG23R49Hc.146G>Ap.Arg49His 0/600 TFC+; n=4   Mutation details
DSG25R146Lc.437G>Tp.Arg146Leu 0/600 TFC+ Digenic: PKP2 Y686X and DSG2 R146L Mutation details
DSG25Splicec.523+2T>Cr.spl? 0/600 TFC+; n=3 In one patient digenic: PKP2 R101H and c.523+2T>C (homozyogous) Mutation details
DSG26Splicec.690+1G>Ar.spl? 0/600 TFC+   Mutation details
DSG27D264Ec.792T>Ap.Asp264Glu 0/600 TFC+   Mutation details
DSG27I269Tc.806T>Cp.Ile269Thr 0/600 TFC+ Digenic: PKP2 A264V and DSG2 I269T Mutation details
DSG28S295fsX300c.882_883insAp.Val295SerfsX6 0/600 TFC+ Compound heterozygote: S295fsX300 and D640fsX654 Mutation details
DSG28N326Vc.977A>Tp.Asn326Val 0/600 TFC+   Mutation details
DSG28N326Vc.977A>Tp.Asn326Val 0/600 TFC+ Digenic: PKP2 L92X and DSG2 N326V Mutation details
DSG213D640fsX654c.1919_1932delp.Gly640AspfsX15 0/600 TFC+ Compound heterozygote: S295fsX300 and D640fsX654 Mutation details
DSP13T564Ic.1691C>Tp.Thr564Ile 0/600 TFC+   Mutation details
DSP20G939Sc.2815G>Ap.Gly939Ser 0/600 TFC+   Mutation details
DSP23E1332fsX1346c.3995_3996delinsAATCGAp.Ala1332GlufsX15 0/600 TFC+   Mutation details
DSP24R1934Xc.5800C>Tp.Arg1934X 0/600 TFC+   Mutation details
DSP24W2000fsX2032c.5999_6000delinsGp.Ser2000TrpfsX33 0/600 TFC+   Mutation details
DSP24R2284Xc.6850C>Tp.Arg2284X 0/600 TFC+   Mutation details
DSP24E2343Lc.7027G>Ap.Glu2343Lys 0/600 TFC+ Digenic: PKP2 R490W and DSP E2343L Mutation details
DSP24R2639Wc.7915C>Tp.Arg2639Trp 0/600 TFC+   Mutation details
DSP24Q2667Xc.7999C>Tp.Gln2667X 0/600 TFC+   Mutation details
JUP8E470Lc.1408G>Ap.Glu470Lys 0/600 TFC+   Mutation details
PKP21D26Nc.76G>A p.Asp26Asn 2/600 TFC+ Classified as polymorphism Mutation details
PKP21S50fsX110c.148_151delACAGp.Thr50SerfsX61 0/600 TFC+; N=4   Mutation details
PKP21E58Dc.174G>Tp.Glu58Asp 0/600 TFC+ Classified as polymorphism, based on Lahtinen's results Mutation details
PKP21A65Sc.193G>Tp.Ala65Ser 0/600 TFC+   Mutation details
PKP21Splicec.223+1G>Ar.spl? 0/600 TFC+   Mutation details
PKP22M85fsX110c.253_256delp.Glu85MetfsX26 0/600 TFC+   Mutation details
PKP22V87Lc.259G>Cp.Val87Leu 0/600 TFC+ Compound heterozygote: F197fsX215 and V87L Mutation details
PKP22L92Xc.275T>Ap.Leu92X 0/600 TFC+; N=2 In one patient digenic: PKP2 L92X and DSG2 N326V Mutation details
PKP22R101Hc.302G>Ap.Arg101His 0/600 TFC+ In one patient digenic: PKP2 R101H and c.523+2T>C (homozyogous) Mutation details
PKP23S140Fc.419C>Tp.Ser140Phe 0/600 TFC+ homozygous; classified as genetic variant of unknown significance Mutation details
PKP23F197fsX215c.587dupp.Ser197PhefsX19 0/600 TFC+ Compound heterozygote: F197fsX215 and V87L Mutation details
PKP23P238Lc.713C>Tp.Pro238Leu 0/600 TFC+   Mutation details
PKP23A264Vc.791C>Tp.Ala264Val 0/600 TFC+ Digenic: PKP2 A264V and DSG2 I269T Mutation details
PKP23R329fsX351c.987delp.Ser329ArgfsX23 0/600 TFC+; N=2   Mutation details
PKP24Q378Xc.1132C>Tp.Gln378X 0/600 TFC+; N=2   Mutation details
PKP24Splicec.1170+1G>Cr.spl? 0/600 TFC+   Mutation details
PKP25R402fsX404c.1205delp.Gln402ArgfsX3 0/600 TFC+   Mutation details
PKP25G411fsX425c.1231dupp.Val411GlyfsX15 0/600 TFC+   Mutation details
PKP25R413Xc.1237C>Tp.Arg413X 0/600 TFC+; N=2   Mutation details
PKP25Splicec.1378+1G>Cr.spl? 0/600 TFC+; n=2   Mutation details
PKP26R490Wc.1468C>Tp.Arg490Trp 0/600 TFC+; N=2 In one patient digenic: PKP2 R490W and DSP E2343L Mutation details
PKP27L544fsX563c.1630_1631insTTp.Pro544LeufsX20 0/600 TFC+   Mutation details
PKP27V548fsX562c.1643delGp.Gly548ValfsX15 0/600 TFC+; n=3 Digenic: PKP2 V548fsX562 and DSC2 S868F Mutation details
PKP27Splicec.1688+1G>Ar.spl? 0/600 TFC+   Mutation details
PKP28Splicec.1689-1G>Cr.spl? 0/600 TFC+   Mutation details
PKP28V587Ic.1759G>Ap.Val587Ile 3/600 TFC+ Classified as polymorphism Mutation details
PKP29R651Xc.1951C>Tp.Arg651X 0/600 TFC+   Mutation details
PKP210Y686Xc.2058T>Gp.Tyr686X 0/600 TFC+ Digenic: PKP2 Y686X and DSG2 R146L Mutation details
PKP211Splicec.2146-1G>Cr.spl 0/600 TFC+; N=7   Mutation details
PKP211A733fsX740c.2197_2202delinsGp.His733AlafsX8 0/600 TFC+   Mutation details
PKP212R811Sc.2431C>Ap.Arg811Ser 0/600 TFC+ Digenic: PKP2 R811S and DSG2 R46Q Mutation details
PKP212Splicec.2489+1G>Ar.spl 0/600 TFC+; n=3   Mutation details
PKP213V837fsX930c.2509delAp.Ser837ValfsX94 0/600 TFC+   Mutation details