A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy.

ABSTRACT:

Background

DES mutations cause different cardiac and skeletal myopathies. Most of them are missense mutations.

Methods

Using a next-generation sequencing cardiac 174 gene panel, we identified a novel heterozygous in-frame indel mutation (DES-c.493_520del28insGCGT, p.Q165_A174delinsAS) in a Caucasian patient with cardiomyopathy in combination with atrioventricular block and skeletal myopathy. This indel mutation is located in the coding region of the first exon. Family anamnesis revealed a history of sudden cardiac death. We performed cell transfection experiments and in vitro assembly experiments to prove the pathogenicity of this novel DES indel mutation.

Results

These experiments revealed a severe filament formation defect of mutant desmin supporting the pathogenici

SUBMITTER: Schirmer I 

PROVIDER: S-EPMC5902401 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature