Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot.

ABSTRACT:

Background

Tetralogy of Fallot (TOF)-the most common cyanotic heart defect in newborns-has evidence of multiple genetic contributing factors. Identifying variants that are clinically relevant is essential to understand patient-specific disease susceptibility and outcomes and could contribute to delineating pathomechanisms.

Methods

Using a clinically driven strategy, we reanalyzed exome sequencing data from 811 probands with TOF, to identify rare loss-of-function and other likely pathogenic variants in genes associated with congenital heart disease.

Results

We confirmed a major contribution of likely pathogenic variants in FLT4 (VEGFR3 [vascular endothelial growth factor receptor 3]; n=14) and NOTCH1 (n=10) and identified 1 to 3 variants in each of 21 oth

SUBMITTER: Reuter MS 

PROVIDER: S-EPMC8373675 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature