Article details

Dalal et al. Journal of the American College of Cardiology 2009;53:1289-99.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSG23V56Mc.166G>Ap.Val56Met 0/400 TFC+1Proband: digenic and compound heterozygote: PKP2 S140F, PKP2 c.2146-1G>C and DSG2 V56M. Offspring has different combinations of two of these mutations Mutation details
DSP21S987P?c.2959T>Cp.Ser987Pro? 0/400 TFC+2  Mutation details
PKP23S140Fc.419C>Tp.Ser140Phe 0/0 TFC+1Proband: digenic and compound heterozygote: PKP2 S140F, PKP2 c.2146-1G>C and DSG2 V56M. Offspring has different combinations of two of these mutations Mutation details
PKP25F424Sc.1271T>Cp.Phe424Ser 0/0 TFC+1Previously reported by Dalal et al in 2006. Mutation details
PKP27V548fsX562c.1643delGp.Gly548ValfsX15 0/0 TFC+6Previously reported by Dalal et al in 2006. Mutation details
PKP210R672fsX683c.2013delCp.Lys672ArgfsX12 0/0 TFC+2Previously reported by Dalal et al. in 2006 Mutation details
PKP211Splicec.2146-1G>Cr.spl 0/0 TFC+3Proband: digenic and compound heterozygote: PKP2 S140F, PKP2 c.2146-1G>C and DSG2 V56M. Offspring has different combinations of two of these mutations Mutation details
PKP212G828Gc.2484C>Tr.2483_2489del 0/0 TFC+3Three patients from 1 family were heterozygous for this cryptic splice site mutation Mutation details
PKP212Splicec.2489+1G>Ar.spl 0/0 TFC+2Previously reported by Dalal et al. in 2006 Mutation details
PKP213V837fsX930c.2509delAp.Ser837ValfsX94 0/0 TFC+3Previously reported by Dalal et al. in 2006 Mutation details