Article details

De Bortoli et al. European Journal of Human Genetics 2010;18:776-82.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSC23E102Kc.304G>Ap.Glu102Lys   See Beffagna et al; affects the normal localization of the mutant protein in cultured cardiomyocytes, thus suggesting a pathogenic effect. Mutation details
DSC25D179Gc.536A>Gp.Asp179Gly   MAF: 2.7% Mutation details
DSC28I345Tc.1034T>Cp.Ile345Thr   See Beffagna et al; affects the normal localization of the mutant protein in cultured cardiomyocytes, thus suggesting a pathogenic effect. Mutation details
DSC215R798Qc.2393G>Ap.Arg798Gln   MAF: 4.7% Mutation details
DSC216A897fsX900c.2686_2687dupGAp.Ala897LysfsX4 6/400 4 out of 5 carried one or two mutations in different ARVC/D genes See Rampazzo et al; may be considered a rare variant, though possibly affecting phenotypic expression of concomitant ARVC/D mutations. Mutation details
DSG24Y87Cc.260A>Gp.Tyr87Cys   Found in patient with DSC2 A897KfsX4 variant Mutation details
DSG213G638Rc.1912G>Ap.Gly638Arg 0/400   See Rampazzo et al; Found in patient with DSP N375I mutation and with DSC2 A897KfsX4 variant Mutation details
DSP9N375Ic.1124A>Tp.Asn375Ile 0/400   See Rampazzo et al; Found in two patients; both with DSC2 A897KfsX4 variant; one with DSG2 G638R mutation and one with PKP2 F552C mutation Mutation details
PKP21T15Tc.45C>Tp.Thr15= 0/220   Found in patient with PKP2 V406SfsX3 mutation and with DSC2 A897KfsX4 variant Mutation details
PKP21E58Dc.174G>Tp.Glu58Asp   MAF: 0.9%; Found in patient with DSC2 A897KfsX4 variant Mutation details
PKP25S406fsX409c.1211dupTp.Val406SerfsX4   Found in patient with DSC2 A897KfsX4 variant Mutation details
PKP27F552Cc.1655T>Gp.Phe552Cys 0/400   Found in patient both with DSP N375I mutation and with DSC2 A897KfsX4 variant Mutation details