Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease.

ABSTRACT:

Importance

Neurodevelopmental disabilities are commonly associated with congenital heart disease (CHD), but medical and sociodemographic factors explain only one-third of the variance in outcomes.

Objective

To examine whether potentially damaging de novo variants (dDNVs) in genes not previously linked to neurodevelopmental disability are associated with neurologic outcomes in CHD and, post hoc, whether some dDNVs or rare putative loss-of-function variants (pLOFs) in specific gene categories are associated with outcomes.

Design, setting, and participants

This cross-sectional study was conducted from September 2017 to June 2020 in 8 US centers. Inclusion criteria were CHD, age 8 years or older, and available exome sequencing data. Individuals with pathogenic gene varian

SUBMITTER: Morton SU 

PROVIDER: S-EPMC9880793 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature