Whole exome sequencing identifies novel inherited genetic variants in tetralogy of Fallot.

ABSTRACT:

Background

Tetralogy of Fallot (TOF) is the most common neonatal cyanotic heart defect, and genetic variation is an important risk factor for the etiology of TOF. Identifying TOF-associated genetic variants is critical to understanding susceptibility and outcome in patients with TOF and may help delineate pathological mechanisms.

Methods

Whole exome sequencing (WES) was performed 19 patients with sporadic TOF and 3 healthy controls. The dbSNP, GnomAD, Denovo-db, and ClinVar databases were used to annotate the mutations. PolyPhen, SIFT, MutationTaster, and FATHMM softwares were used for mutation pathogenicity analysis. Sanger sequencing was used to validate candidate variants.

Results

We identified 21 genetic variants involving 16 genes were found in 12 patients with s

SUBMITTER: Pan Y 

PROVIDER: S-EPMC9442507 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature