Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes.

ABSTRACT:

Purpose

Congenital diaphragmatic hernia (CDH) is associated with significant mortality and long-term morbidity in some but not all individuals. We hypothesize monogenic factors that cause CDH are likely to have pleiotropic effects and be associated with worse clinical outcomes.

Methods

We enrolled and prospectively followed 647 newborns with CDH and performed genomic sequencing on 462 trios to identify de novo variants. We grouped cases into those with and without likely damaging (LD) variants and systematically assessed CDH clinical outcomes between the genetic groups.

Results

Complex cases with additional congenital anomalies had higher mortality than isolated cases (P = 8 × 10^-6). Isolated cases with LD variants had similar mortality to complex cases and

SUBMITTER: Qiao L 

PROVIDER: S-EPMC7710626 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature