Genomic study of dilated cardiomyopathy in a group of Mexican patients using site-directed next generation sequencing.

ABSTRACT:

Background

Dilated cardiomyopathy (DCM) is a major cause of nonischemic heart failure and death in young adults. Next generation sequencing (NGS) has become part of the diagnostic workup in idiopathic and familial DCM. More than 50 DCM genes have been identified, revealing great molecular heterogeneity and variable diagnostic yield. Interpretation of variant pathogenicity is challenging particularly in underrepresented populations, as pathogenic variant databases include studies mainly from European/Caucasian populations. To date, no studies on genomic diagnosis of DCM have been conducted in Mexico.

Methods

We recruited 55 unrelated DCM patients, 22 familial (F-DCM), and 33 idiopathic (I-DCM), and performed site-directed NGS seeking causal mutations. Diagnostic yield was def

SUBMITTER: Carnevale A 

PROVIDER: S-EPMC7667365 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature