Desmin-p.L112Q Disturbs the Filament Formation and Is a Likely-Pathogenic Variant Associated with Dilated Cardiomyopathy
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DES encodes the muscle specific intermediate filament protein desmin and mutations in this gene cause different cardiomyopathies. Here, we functionally validate DES-p.L112Q using SW-13, H9c2 cells and cardiomyocytes derived from induced pluripotent stem cells by confocal microscopy. These experiments reveal an aberrant cytoplasmic aggregation of mutant desmin. In conclusion, these functional analyses support the re-classification of DES-p.L112Q as a likely pathogenic variant leading to dilated cardiomyopathy.