NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.

ABSTRACT:

Background

NODAL signaling plays a critical role in embryonic patterning and heart development in vertebrates. Genetic variants resulting in perturbations of the TGF-β/NODAL signaling pathway have reproducibly been shown to cause laterality defects in humans. To further explore this association and improve genetic diagnosis, the study aims to identify and characterize a broader range of NODAL variants in a large number of individuals with laterality defects.

Methods

We re-analyzed a cohort of 321 proband-only exomes of individuals with clinically diagnosed laterality congenital heart disease (CHD) using family-based, rare variant genomic analyses. To this cohort we added 12 affected subjects with known NODAL variants and CHD from institutional research and clinical cohorts t

SUBMITTER: Dardas Z 

PROVIDER: S-EPMC10988827 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature