Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases.

ABSTRACT:

Aims

The genetic cause of cardiac conduction system disease (CCSD) has not been fully elucidated. Whole-exome sequencing (WES) can detect various genetic variants; however, the identification of pathogenic variants remains a challenge. We aimed to identify pathogenic or likely pathogenic variants in CCSD patients by using WES and 2015 American College of Medical Genetics and Genomics (ACMG) standards and guidelines as well as evaluating the usefulness of functional studies for determining them.

Methods and results

We performed WES of 23 probands diagnosed with early-onset (<65 years) CCSD and analysed 117 genes linked to arrhythmogenic diseases or cardiomyopathies. We focused on rare variants (minor allele frequency < 0.1%) that were absent from population databases. Five pr

SUBMITTER: Hayashi K 

PROVIDER: S-EPMC8453299 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature