Article details

Cox et al. Circulation 2011;123:2690-2700.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSC25R203Hc.608G>Ap.Arg203His 0/400 TFC+   Mutation details
DSC27Splicec.942+3A>Gr.spl? 0/400 TFC+   Mutation details
DSC28Splicec.943-1G>Ar.spl? 0/400 TFC+ Patient also carried DSP A2150G variant Mutation details
DSC212I603Lc.1807A>Cp.Ile603Leu 0/400 TFC+   Mutation details
DSC213Q638Hc.1914G>Cp.Gln638His 0/400 TFC+   Mutation details
DSC214L732Vc.2194T>Gp.Leu732Val 0/0 TFC+, N=2 See Bhuiyan et al. Mutation details
DSC215R798Qc.2393G>Ap.Arg798Gln 0/400 TFC+   Mutation details
DSC216G863Rc.2587G>A p.Gly863Arg 0/400 TFC+ Patient also carried PKP2 mutation Q306fsX334 Mutation details
DSC216A897fsX900c.2686_2687dupGAp.Ala897LysfsX4 0/0 TFC+, N=8 6/8 patients also carried a pathogenic PKP mutation Mutation details
DSG23R46Qc.137G>Ap.Arg46Gln 0/0 TFC+, N=2 See Bhuiyan et al. Mutation details
DSG24Splicec.378+2T>Gr.spl? 0/400 TFC+   Mutation details
DSG25V149Fc.445G>Tp.Val149Phe 0/0 TFC+ See Bhuiyan et al; patient also carried JUP E453D variant Mutation details
DSG25V158Gc.473T>Gp.Val158Gly 0/0 TFC+, N=2 See Bhuiyan et al. Mutation details
DSG26P205Lc.614C>Tp.Pro205Leu 0/0 TFC+ See Bhuiyan et al. Mutation details
DSG27R261Rc.783T>Ap.Arg261= 0/400 TFC+   Mutation details
DSG28R292Cc.874C>Tp.Arg292Cys 0/400 TFC+ Patient also carried DSP D782D variant Mutation details
DSG28D297Nc.889G>Ap.Asp297Asn 0/0 TFC+ See Bhuiyan et al. Mutation details
DSG28T335Ac.1003A>Gp.Thr335Ala 0/400 TFC+, N=3   Mutation details
DSG29A358Tc.1072G>Ap.Ala358Thr 0/400 TFC+   Mutation details
DSG29V392Ic.1174G>A p.Val392Ile 0/400 TFC+ See Bhuiyan et al. Mutation details
DSG210D435Nc.1303G>Ap.Asp435Asn 0/400 TFC+   Mutation details
DSG211D494Nc.1480G>Ap.Asp494Asn 0/400 TFC+   Mutation details
DSG214E713Kc.2137G>Ap.Glu713Lys 0/400 TFC+   Mutation details
DSG214F732Vc.2194T>Gp.Phe732Val 0/400 TFC+   Mutation details
DSG215M875Vc.2623A>Gp.Met875Val 0/400 TFC+   Mutation details
DSG215V920Gc.2759T>Gp.Val920Gly 0/400 TFC+   Mutation details
DSP1G35Gc.105G>Ap.Gly35= 0/400 TFC+   Mutation details
DSP2Q90Rc.269A>Gp.Gln90Arg 0/400 TFC+   Mutation details
DSP13A566Tc.1696G>Ap.Ala566Thr 0/400 TFC+   Mutation details
DSP15N661Ic.1982A>Tp.Asn661Ile 0/400 TFC+   Mutation details
DSP17D782Dc.2346C>Tp.Asp782= 0/400 TFC+ Patient also carried DSG2 R292C mutation Mutation details
DSP23R1113Xc.3337C>Tp.Arg1113X 0/400 TFC+1Patient also carried DSP R1458G variant Mutation details
DSP23R1458Gc.4372C>Gp.Arg1458Gly 0/400 TFC+ Patient also carried DSP R1113X mutation Mutation details
DSP23K1592Rc.4775A>Gp.Lys1592Arg 0/400 TFC+   Mutation details
DSP23E1740Kc.5218G>Ap.Glu1740Lys 0/400 TFC+, N=2   Mutation details
DSP24E1833Vc.5498A>Tp.Glu1833Val 0/400 TFC+   Mutation details
DSP24A2150Gc.6449C>Gp.Ala2150Gly 0/400 TFC+ Patient also carried DSC2 c.943-1G>A mutation Mutation details
JUP3S99Sc.297G>Ap.Ser99= 0/400 TFC+   Mutation details
JUP8E453Dc.1359G>Tp.Glu453Asp 0/400 TFC+ Patient also carried DSG2 V149F variant Mutation details
JUP9A521Ac.1563A>Gp.Ala521= 0/400 TFC+, N=2   Mutation details
JUP12V648Ic.1942G>Ap.Val648Ile 0/400 TFC+   Mutation details
PKP21Del exon 1-4c.1-?_542+?del- 0/400 TFC+1  Mutation details
PKP21Del exon 1-14c.1-?_*?del- 0/400 TFC+ Patient also carried DSG2 A358T variant Mutation details
PKP21D26Nc.76G>A p.Asp26Asn 0/0 TFC+, N=2 See van Tintelen et al. Mutation details
PKP21S50fsX110c.148_151delACAGp.Thr50SerfsX61 0/0 TFC+, N=2 See van Tintelen et al; one patient also carried DSC2 A897fsX900 variant Mutation details
PKP21E58Dc.174G>Tp.Glu58Asp 0/0 TFC+   Mutation details
PKP22R79Xc.235C>Tp.Arg79X 0/0 TFC+, N=93See van Tintelen et al; See van der Zwaag et al; two patients also carried a variant in DSG2 Mutation details
PKP22Y86Xc.258T>Gp.Tyr86X 0/0 TFC+ See van Tintelen et al. Mutation details
PKP23Q133Xc.397C>Tp.Gln133X 0/0 TFC+, N=93See van Tintelen et al; three patients also carried a variant in DSG2 Mutation details
PKP23G253Gc.759C>Tp.Gly253= 0/0 TFC+   Mutation details
PKP23Q306fsX334c.917_918delCCp.Pro318GlnfsX29 0/400 TFC+, N=31One patient also carried DSC G863R mutation Mutation details
PKP25S406fsX409c.1211dupTp.Val406SerfsX4 0/0 TFC+, N=116See van Tintelen et al; four patients also carried a variant in DSC2 or DSP Mutation details
PKP25Q457Xc.1369_1372delCAAAp.Gln457X 0/0 TFC+, N=2   Mutation details
PKP25D460Nc.1378G>Ap.Asp460Asn 0/400 TFC+ Splice-prediction software SpliceSitefinder, MaxEntScan and NNSPLICE predict impaired recognition of WT splice donor site Mutation details
PKP28Del exon 8c.1689-?_1806+?del- 0/400 TFC+ Patient also carried DSC2 A897fsX900 variant Mutation details
PKP29Y616Xc.1848C>Ap.Tyr616X 0/0 TFC+, N=4 See van Tintelen et al; one patient also carried the JUP V648I variant Mutation details
PKP210W676Xc.2028G>Ap.Trp676X 0/0 TFC+ See van Tintelen et al. Mutation details
PKP210W678Xc.2034G>Ap.Trp678X 0/400 TFC+   Mutation details
PKP210S688Pc.2062T>Cp.Ser688Pro 0/0 TFC+ See van Tintelen et al. Mutation details
PKP211Splicec.2146-1G>Cr.spl 0/0 TFC+, N=7 See van Tintelen et al. Mutation details
PKP212C796Rc.2386T>Cp.Cys796Arg 0/0 TFC+, N=111See van Tintelen et al; two patients also carried a variant in DSG2 or JUP Mutation details
PKP212Y807Xc.2421C>Ap.Tyr807X 0/0 TFC+ See van Tintelen et al; patient also carried DSC2 A897fsX900 variant Mutation details
PKP212Splicec.2489+1G>Ar.spl 0/0 TFC+, N=61See van Tintelen et al; two patients also carried a variant in DSG2 or JUP Mutation details
PKP212Splicec.2489+4A>Cr.spl 0/0 TFC+, N=4 See Bhuiyan et al; one patient also carried DSP N661I mutation Mutation details
PKP213V837fsX930c.2509delAp.Ser837ValfsX94 0/0 TFC+   Mutation details
PKP213W848Xc.2544G>Ap.Trp848X 0/0 TFC+1See van Tintelen et al; patient also carried DSC2 A897fsX900 variant Mutation details