Whole-Exome Sequencing Identified a Novel Variant (C.405_422+39del) in DSP Gene in an Iranian Pedigree with Familial Dilated Cardiomyopathy.

ABSTRACT:

Background

Dilated cardiomyopathy (DCM) is a progressive heart condition characterized by left ventricular chamber enlargement associated with systolic heart failure and prolonged action potential duration. Genetic variations in genes that encode cytoskeleton, sarcomere, and nuclear envelope proteins are responsible for 45% of cases. In our study, we focused on a pedigree with familial DCM to decipher the potential genetic cause(s) in affected members developing arrhythmia, end-stage heart failure, and sudden death.

Methods

Whole-exome sequencing (WES) was exploited for a 27-year-old heart-transplanted female as the proband, and the derived data were filtered using the standard pipelines.

Results

A 57-nucleotide deletion (c.405_422+39del) in the desmoplakin gene (DSP)

SUBMITTER: Eshaghkhani Y 

PROVIDER: S-EPMC8480302 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature