Article details

Christensen et al. Journal of Medical Genetics 2010;47:736-44.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSC21E2Kc.4G>Ap.Glu2Lys 0/1300 TFC+ Patient also carries PKP2 S140F variant Mutation details
DSC24G150Ac.449G>Cp.Gly150Ala 0/1300 TFC+ Patient also carries JUP S225L Mutation details
DSC215S824Lc.2471C>Tp.Ser824Leu 0/1300 TFC+ Patient also carries PKP D26N variant Mutation details
DSC215Splicec.2508+5G>Ar.spl? 0/1300 TFC+   Mutation details
DSC216A897fsX900c.2686_2687dupGAp.Ala897LysfsX4 22/1300 TFC+ Found in 2 patients (p=1.0) Mutation details
DSG23V56Mc.166G>Ap.Val56Met 4/1300 TFC+ Found in 1 patient (p=0.38) Mutation details
DSG28T335Ac.1003A>Gp.Thr335Ala 0/1300 TFC+   Mutation details
DSG215V920Gc.2759T>Gp.Val920Gly 3/1300 TFC- Found in 1 patient (p=0.32) Mutation details
DSG215A1020fsX1027c.3059_3062delAGAGp.Glu1020AlafsX18 0/1300 TFC+   Mutation details
DSP2C81Yc.242G>Ap.Cys81Tyr 2/1400 TFC+ Found in 1 patient (p=0.13) Mutation details
DSP7Splicec.939+1G>Ar.spl? 0/1300 TFC+   Mutation details
DSP24G2056Rc.6166G>Cp.Gly2056Arg 0/1300 TFC+, LV involvement, palmar keratoderma and curly hair Homozygous, from consanguineous family Mutation details
JUP4S225Lc.674C>Tp.Ser225Leu 0/1300 TFC+: N=2 One patient also carries DSC2 G150A, another from the same family PKP2 E329fsX352. Mutation details
JUP8V407Ic.1219G>Ap.Val407Ile 0/1300 TFC+ Patient also carries PKP D26N variant Mutation details
JUP8T427Mc.1280C>Tp.Thr427Met 0/1300 TFC+ Compound heterozygote: T427M and V603L Mutation details
JUP11V603Lc.1807G>Tp.Val603Leu 0/1300 TFC+ Compound heterozygote: T427M and V603L Mutation details
PKP21D26Nc.76G>A p.Asp26Asn 0/0     Mutation details
PKP21E58Dc.174G>Tp.Glu58Asp 0/0   Found in 1/106 patient alleles Mutation details
PKP21Q62Kc.184C>A p.Gln62Lys 0/1300 TFC+; 2 patients A clinically affected brother of one patient does not carrry the mutation. The pathogeneity cannot be established with certainty due to lack of change in amino acid polarity. Mutation details
PKP21S70Ic.209G>Tp.Ser70Ile 0/0   Found in 3/106 patient alleles Mutation details
PKP22R79Xc.235C>Tp.Arg79X 0/0 TFC+ Patient also carries JUP S225L Mutation details
PKP23S140Fc.419C>Tp.Ser140Phe 5/1300   Found in 3 patients (p=0.02); may reflect that this mutation is a susceptibility mutation or has a disease-modifying role. Mutation details
PKP23E329fsX352c.982_983dupGGp.Ser329GlufsX24 0/1300 TFC+ Patient also carries JUP S225L Mutation details
PKP23T338Ac.1012A>Gp.Thr338Ala 1/1300   Patient also carries PKP2 D26N Mutation details
PKP24L366Pc.1097T>Cp.Leu366Pro 0/0   Found in 19/106 patient alleles; 5 were homozygous Mutation details
PKP25P401fsX406c.1202_1209del8p.Leu401ProfsX6 0/1300 TFC+   Mutation details
PKP26G489Rc.1465G>Ap.Gly489Arg 0/1300 TFC+ The pathogeneity cannot be established with certainty due to location in a nonconserved region. Mutation details
PKP27I531Sc.1592T>Gp.Ile531Ser 0/0   Found in 1/106 patient alleles Mutation details
PKP28V587Ic.1759G>Ap.Val587Ile 3/1300   Found in 1 of 53 patients (p=0.27); may reflect that this mutation is a susceptibility mutation or has a disease-modifying role. Mutation details
PKP210G673Vc.2018G>Tp.Gly673Val 0/1300 TFC+ The pathogeneity cannot be established with certainty due to lack of change in amino acid polarity. Mutation details
PKP211Splicec.2146-2A>Tr.spl? 0/1300 TFC+ Predicted to abolish the highly conserved splice acceptor site and introduces a cryptic splice acceptor site further downstream. Mutation details