Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot.

ABSTRACT:

Objective

Eighty percent of patients with a diagnosis of tetralogy of Fallot (TOF) do not have a known genetic etiology or syndrome. We sought to identify key molecular pathways and biological processes that are enriched in non-syndromic TOF, the most common form of cyanotic congenital heart disease, rather than single driver genes to elucidate the pathogenesis of this disease.

Methods

We undertook exome sequencing of 362 probands with non-syndromic TOF and their parents within the Pediatric Cardiac Genomics Consortium (PCGC). We identified rare (minor allele frequency <1 × 10^-4), de novo variants to ascertain pathways and processes affected in this population to better understand TOF pathogenesis. Pathways and biological processes enriched in the PCGC TOF

SUBMITTER: Harvey DC 

PROVIDER: S-EPMC10569225 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature