Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders.

ABSTRACT:

Background

Rare damaging genetic variation accounts for a substantial proportion of the risk of rare developmental disorders (DDs), but common genetic variants as well as environmental factors, including prematurity, also contribute. Little is known about the interplay between prematurity and genetic variation in influencing phenotypic outcomes in DDs, nor about how genetic factors may contribute to risk of preterm birth in DDs.

Methods

We leveraged phenotypic and genetic data from 21,712 patients with DDs recruited for clinical sequencing, 16% of whom were born prematurely. Using multivariable regression models, we compared phenotypic features and the prevalence of diagnostic genetic variation in specific genes between preterm and term individuals with DDs. We tested whethe

SUBMITTER: Wootton O 

PROVIDER: S-EPMC12574137 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature