Targeted Next Generation Sequencing for Genetic Mutations of Dilated Cardiomyopathy.

ABSTRACT:

Background

Approximately one-third of cases of dilated cardiomyopathy (DCM) are caused by genetic mutations. With new sequencing technologies, numerous variants have been associated with this inherited cardiomyopathy, however the prevalence and genotype-phenotype correlations in different ethnic cohorts remain unclear. This study aimed to investigate the variants in Chinese DCM patients and correlate them with clinical presentations and prognosis.

Methods and results

From September 2013 to December 2016, 70 index patients underwent DNA sequencing for 12 common disease-causing genes with next generation sequencing. Using a bioinformatics filtering process, 12 rare truncating variants (7 nonsense variants, 4 frameshift variants, and 1 splice site variant) and 29 rare missense

SUBMITTER: Yeh JK 

PROVIDER: S-EPMC6859096 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature