Article details

Rasmussen et al. Clinical Genetics 2013;84:20-30.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSG23R46Qc.137G>Ap.Arg46Gln 0/0 TFC+, age 462Also carries V30M in DSP. See Rasmussen et al. Human Mutation 2013 Mutation details
DSP1V30Mc.88G>Ap.Val30Met 0/0 TFC+, age 46 Also carries R46Q in DSG2. See Rasmussen et al. Human Mutation 2013. Mutation details
DSP13K324_E325delc.969_974delAAAAGAp.Lys324_Glu325del 0/210 TFC+, age 463Also carries T526M in PKP2. Reduced DSP expression in myocardial tissue. All affected relatives carry both variants, carriers of only DSP mutation are unaffected. Mutation details
DSP23R1269Xc.3805C>Tp.Arg1269X 0/210 TFC+, age 492decreased DSP expression in endomyocardial biopsy. Mutation details
DSP24P2594fsX2602c.7780delTp.Ser2594ProfsX9 0/210 CS Carvajal syndrome, cardiac transplantation at age 12, wooly hair, palmoplantar keratoderma. Autosomal recessive (homozygous) Mutation details
PKP27T526Mc.1577C>Tp.Thr526Met 0/0 TFC+, age 463Also carries K324_E325del in DSP. All affected relatives carry both variants, proposed a modifying role for T526M Mutation details