Daniela Andrei, Jeroen Bremer, Duco Kramer, Albertine M Nijenhuis, Marije van der Molen, Gilles F H Diercks, Peter C van den Akker, Mathilde C S C Vermeer, Peter van der Meer, Maria C Bolling
Desmoplakin (DSP) is a desmosomal component expressed in skin and heart, essential for desmosome stability and intermediate filament connection. Pathogenic variants in the DSP gene encoding DSP, lead to heterogeneous skin, adnexa and heart-related phenotypes, including skin fragility, woolly hair (WH), palmoplantar keratoderma (PPK) and arrhythmogenic/dilated cardiomyopathy (ACM/DCM). The ambiguity of computer-based prediction analysis of pathogenicity and effect of DSP variants, indicates a necessity for functional analysis...
March 2024: Experimental Dermatology