Genetic Influence on Neurodevelopment in Nonsyndromic Craniosynostosis.

ABSTRACT:

Background

Nonsyndromic craniosynostosis is one of the most common anomalies treated by craniofacial surgeons. Despite optimal surgical management, nearly half of affected children have subtle neurocognitive deficits. Whereas timing and type of surgical intervention have been studied, the possibility of genetic influence on neurodevelopment in nonsyndromic craniosynostosis patients remains unexplored.

Methods

The authors performed whole-exome sequencing for 404 case-parent trios with sporadic nonsyndromic craniosynostosis. Statistical analyses were performed to assess the burden of de novo mutations in cases compared to both expectation and 1789 healthy control trios. Individuals with and without each mutation class were analyzed, and the presence or absence of various types

SUBMITTER: Timberlake AT 

PROVIDER: S-EPMC9050795 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature