Article details

Bhuiyan et al. Circulation Cardiovascular Genetics 2009;2:418-27.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSC27P289Sc.865C>Tp.Pro289Ser 0/300 TFC- (1 major and 1 minor)   Mutation details
DSC28D350Yc.1048G>Tp.Asp350Tyr 0/300 TFC- (1 major and 1 minor)   Mutation details
DSC212I603Tc.1808T>Cp.Ile603Thr 0/300 TFC+   Mutation details
DSC214L732Vc.2194T>Gp.Leu732Val 0/300 TFC+ Digenic: DSG2 V392I Mutation details
DSG21L15Qc.44T>Ap.Leu15Gln 0/300 TFC- (1 major and 1 minor)   Mutation details
DSG23R46Qc.137G>Ap.Arg46Gln 0/300 TFC+ Founder mutation Mutation details
DSG23V56Mc.166G>Ap.Val56Met 0/300 TFC- (1 major OR 2 minor)   Mutation details
DSG24I73Vc.217A>Gp.Ile73Val 0/300 TFC- (1 major OR 2 minor)   Mutation details
DSG25V149Fc.445G>Tp.Val149Phe 0/300 TFC- (1 major OR 2 minor)   Mutation details
DSG25V158Gc.473T>Gp.Val158Gly 3/300 TFC+ Carries DSG2 R46Q mutation Mutation details
DSG26P205Lc.614C>Tp.Pro205Leu 0/300 TFC+ Compound heterozygote: DSG2 G1083S Mutation details
DSG28D297Nc.889G>Ap.Asp297Asn 0/300 TFC+ Homozygous mutation carrier Mutation details
DSG29V392Ic.1174G>A p.Val392Ile 0/300 TFC+ LDAC in one patient; Digenic in another: DSC2 L732V Mutation details
DSG215N1067Dc.3199A>Gp.Asn1067Asp 0/300 TFC- (1 major OR 2 minor)   Mutation details
DSG215G1083Sc.3247G>Ap.Gly1083Ser 0/300 TFC+ Compound heterozygote: DSG2 P205L Mutation details
PKP21D26Nc.76G>A p.Asp26Asn 0/0 TFC+ See van Tintelen et al. Mutation details
PKP21S50fsX110c.148_151delACAGp.Thr50SerfsX61 0/0 TFC+ See van Tintelen et al. Mutation details
PKP22R79Xc.235C>Tp.Arg79X 0/0 TFC+ See van Tintelen et al. Mutation details
PKP22Y86Xc.258T>Gp.Tyr86X 0/0 TFC+ See van Tintelen et al. Mutation details
PKP23Q133Xc.397C>Tp.Gln133X 0/0 TFC+ See van Tintelen et al. Mutation details
PKP23T338Ac.1012A>Gp.Thr338Ala 0/300 TFC- (1 major OR 2 minor)   Mutation details
PKP25S406fsX409c.1211dupTp.Val406SerfsX4 0/0 TFC+ See van Tintelen et al. Mutation details
PKP27I531Sc.1592T>Gp.Ile531Ser 0/0 TFC- (1 major OR 2 minor)   Mutation details
PKP29Y616Xc.1848C>Ap.Tyr616X 0/0 TFC+ See van Tintelen et al. Mutation details
PKP210W676Xc.2028G>Ap.Trp676X 0/0 TFC+ See van Tintelen et al. Mutation details
PKP210S688Pc.2062T>Cp.Ser688Pro 0/0 TFC+ See van Tintelen et al. Mutation details
PKP212C796Rc.2386T>Cp.Cys796Arg 0/0 TFC+ See van Tintelen et al. Mutation details
PKP212Y807Xc.2421C>Ap.Tyr807X 0/0 TFC+ See van Tintelen et al. Mutation details
PKP212Splicec.2489+1G>Ar.spl 0/0 TFC+ See van Tintelen et al. Mutation details
PKP212Splicec.2489+4A>Cr.spl 0/0 TFC+   Mutation details
PKP213W848Xc.2544G>Ap.Trp848X 0/0 TFC+ See van Tintelen et al. Mutation details