Genetic and functional analyses detect one pathological NFATC1 mutation in a Chinese tricuspid atresia family.

ABSTRACT:

Background

Cardiac valvulogenesis is a highly conserved process among vertebrates and cause unidirectional flow of blood in the heart. It was precisely regulated by signal pathways such as VEGF, NOTCH, and WNT and transcriptional factors such as TWIST1, TBX20, NFATC1, and SOX9. Tricuspid atresia refers to morphological deficiency of the valve and confined right atrioventricular traffic due to tricuspid maldevelopment, and is one of the most common types of congenital valve defects.

Methods

We recruited a healthy couple with two fetuses aborted due to tricuspid atresia and identified related gene mutations using whole-exome sequencing. We then discussed the pathogenic significance of this mutation by bioinformatic and functional analyses.

Results

PROVEAN, PolyPhen, Mut

SUBMITTER: Li B 

PROVIDER: S-EPMC8457709 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature