Concurrent impact of de novo mutations on cranial and cortical development in nonsyndromic craniosynostosis.

ABSTRACT:

Objective

Nonsyndromic craniosynostosis (nsCS), characterized by premature cranial suture fusion, is considered a primary skull disorder in which impact on neurodevelopment, if present, results from the mechanical hindrance of brain growth. Despite surgical repair of the cranial defect, neurocognitive deficits persist in nearly half of affected children. Therefore, the authors performed a functional genomics analysis of nsCS to determine when, where, and in what cell types nsCS-associated genes converge during development.

Methods

The authors integrated whole-exome sequencing data from 291 nsCS proband-parent trios with 29,803 single-cell transcriptomes of the prenatal and postnatal neurocranial complex to inform when, where, and in what cell types nsCS-mutated genes might e

SUBMITTER: Kiziltug E 

PROVIDER: S-EPMC10783441 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature