Molecular Characterization of Pediatric Restrictive Cardiomyopathy from Integrative Genomics.

ABSTRACT: Pediatric restrictive cardiomyopathy (RCM) is a genetically heterogeneous heart disease with limited therapeutic options. RCM cases are largely idiopathic; however, even within families with a known genetic cause for cardiomyopathy, there is striking variability in disease severity. Although accumulating evidence implicates both gene expression and alternative splicing in development of dilated cardiomyopathy (DCM), there have been no detailed molecular characterizations of underlying pathways dysregulated in RCM. RNA-Seq on a cohort of pediatric RCM patients compared to other forms of adult cardiomyopathy and controls identified transcriptional differences highly common to the cardiomyopathies, as well as those unique to RCM. Transcripts selectively induced in RCM include many known and n

SUBMITTER: Rindler TN 

PROVIDER: S-EPMC5241776 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature