Article details

Rigato et al. Circulation Cardiovascular Genetics 2013;6:533-42.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSC28I345Tc.1034T>Cp.Ile345Thr 0/0 TFC+; N=1 See Rampazzo et al. 2008 Mutation details
DSG24Y87Cc.260A>Gp.Tyr87Cys 0/0 TFC+; N=1 See Pilichou at al. 2006 Mutation details
DSG24G100Rc.298G>Cp.Gly100Arg 0/0 TFC+; N=2 See Pilichou et al. 2006 Mutation details
DSG25R146Hc.437G>Ap.Arg146His 0/0 TFC+; N=1 See Rampazzo et al. 2008 Carries PKP2 S209R and R816fsX825 Mutation details
DSG26E230Gc.689A>Gp.Glu230Gly 0/0 TFC+; N=2 1 patient also carries DSG2 D297G See Bauce et al 2011 Mutation details
DSG27N266Sc.797A>Gp.Asn266Ser 0/0 TFC+; N=4 See Pilichou et al 2006 Mutation details
DSG28K294Ec.880A>Gp.Lys294Glu 0/0 TFC+; N=3 See Pilichou et al 2006 Mutation details
DSG28D297Gc.890A>Gp.Asp297Gly 0/0 TFC+; N=1 also carries DSG2 E230G See Rampazzo et al 2008 Mutation details
DSG28E331Kc.991G>Ap.Glu331Lys 0/0 TFC+ Compound heterozygote: DSG2 c.1881-2A>G See Pilichou et al 2006 Mutation details
DSG29V392Ic.1174G>A p.Val392Ile 0/0 TFC+; N=5 See Rampazzo et al 2008 Mutation details
DSG29D419Xc.1254_1257insATGAp.Asp419X 0/0 TFC+; N=1 Also carries DSG2 V997fsX1016. See Pilichou et al 2006 Mutation details
DSG213Splicec.1880-2A>Gr.spl 0/0 TFC+ Compound heterozygote DSG2 E331K. See Pilichou et al 2006 Mutation details
DSG213G638Rc.1912G>Ap.Gly638Arg 0/0 TFC+ Carries also DSP N375I See Rampazzo et al 2008, Bauce et al 2011 Mutation details
DSG214G678Ac.2033G>Cp.Gly678Ala 0/0 TFC+,N=4   Mutation details
DSG215L831Fc.2491C>Tp.Leu831Phe 0/0 TFC+; N=7 See Rampazzo et al 2008 Mutation details
DSG215P925Sc.2773C>Tp.Pro925Ser 0/0 TFC+; N=11Carry also DSP V1068fsX1086. See Rampazzo 2008 Mutation details
DSG215V997fsX1016c.2990delGp.Gly997ValfsX20 0/0 TFC+; N=3 1 patient carries also DSG2 D419X. See Pilichou et al 2006 Mutation details
DSP1V30Mc.88G>Ap.Val30Met 0/0 TFC+; N=8 1 patient carries also DSP R2541K. See Bauce et al 2010 Mutation details
DSP7Q273Xc.817C>Tp.Gln273X 0/0 TFC+; N=4 See Rampazzo et al 2008 Mutation details
DSP7S299Rc.897C>Gp.Ser299Arg 0/0 TFC+; N=10 See Rampazzo et al. 2002 Mutation details
DSP9N375Ic.1124A>Tp.Asn375Ile 0/0 TFC+; N=1 with DSG2 G638R See Bauce et al 2011 Mutation details
DSP11N458Yc.1372A>Tp.Asn458Tyr 0/0 TFC+; N=3 See Rampazzo et al. 2008 Mutation details
DSP11K470Ec.1408A>Gp.Lys470Glu 0/0 TFC+; N=2 See Basso et al. 2006 Mutation details
DSP23V1068fsX1086c.3203_3204delAGp.Glu1068ValfsX19 0/0 TFC+; N=11Carries also DSG2 P925S. See Rampazzo et al. 2008 Mutation details
DSP23R1113Xc.3337C>Tp.Arg1113X 0/0 TFC+; N=4 See Bauce et al 2011 Mutation details
DSP23R1255Kc.3764G>Ap.Arg1255Lys 0/0 TFC+; N=2 See Bauce et al. 2005. 1 patient carries PKP2 Q211X and I778T Mutation details
DSP23D1258Ec.3774C>Ap.Asp1258Glu 0/0 TFC+; N=2 See Rampazzo et al. 2008 Mutation details
DSP23M1601Ic.4803G>Ap.Met1601Ile 0/0 TFC+; N=4 See Rampazzo et al. 2008 Mutation details
DSP23L1654Pc.4961T>Cp.Leu1654Pro 0/0 TFC+; N=151 carried also PKP2 Q62K and PKP2 Q707X. 5 relatives carry also PKP2 Q707X See Bauce et al 2010 Mutation details
DSP23S1658Fc.4973C>Tp.Ser1658Phe 0/0 TFC+ Carries also I2347V in DSP Mutation details
DSP24I2347Vc.7039A>Gp.Ile2347Val 0/0 TFC+ Carries also S1658F in DSP Mutation details
DSP24R2541Kc.7622G>Ap.Arg2541Lys 0/0 TFC+; N=3 1 patient also carries DSP V30M See Bauce et al 2010 Mutation details
PKP21S50fsX110c.148_151delACAGp.Thr50SerfsX61 0/0 TFC+; N=11 2 patients also carry DSG2 V392I. See Bauce et al 2010 Mutation details
PKP21Q59Xc.175C>Tp.Gln59X 0/0 TFC+,N=1   Mutation details
PKP21Q62Kc.184C>A p.Gln62Lys 0/0 TFC+; N=2 1 patient carries also DSP L1654P and PKP2 Q707X. 1 patient carries also PKP2 Q707X. See Bauce et al 2010 Mutation details
PKP21D62fsX84c.184_185delCAp.Gln62AspfsX23 0/0 TFC+; N=2 See Bauce et al 2011 Mutation details
PKP22N76Sc.227A>Gp.Ans76Ser 0/0 TFC+; N=2 See Bauce et al 2011 Mutation details
PKP22K112Nc.336G>C/Tp.Lys112Asn 0/0 TFC+; N=2 See Rampazzo et al 2008 Mutation details
PKP23S209Rc.627C>Gp.Ser209Arg 0/0 TFC+; N=1 Carries also PKP2 R816fsX825 and DSG2 R146H. See Rampazzo et al 2008 Mutation details
PKP23Q211Xc.631C>Tp.Gln211X 0/0 TFC+ N=1 Carries PKP2 I778T and DSP R1255K. See Rampazzo et al. 2008 Mutation details
PKP23Y221Xc.663C>Ap.Tyr221X 0/0   Carries DSP R1255K Mutation details
PKP27V548fsX562c.1643delGp.Gly548ValfsX15 0/0 TFC+ N=4 See Bauce et al 2011 Mutation details
PKP210N670fsX683c.2009delCp.Asn670ThrfsX14 0/0 TFC+ N=7  See Basso et al. 2006 Mutation details
PKP210Q707Xc.2119C>Tp.Gln707X 0/0   Study carried out on families. 7 patients carry Q707X + 7patients digenic/compound h. (1 patient carries also DSP L1654P and PKP2 Q62K. See Bauce et al 2010. 1 patient carries also PKP2 Q62K. 5 patients carry also L1654P in DSP) Mutation details
PKP212I778Tc.2333T>Cp.Ile778Thr 0/0 TFC+; N=2 1 patient carries also PKP2 Q211X and DSP R1255K. See Rampazzo et al. 2008. Mutation details
PKP212R816fsX825c.2447_2448delCCp.Thr816ArgfsX10 0/0 TFC+; N=4 1 carries also PKP2 S209R and DSG2 R146H. See Rampazzo et al 2008 Mutation details