Genetic Insights Into Craniosynostosis: Identification of Novel IL11RA Variants in Chinese Pediatric Patients.

ABSTRACT:

Background

Craniosynostosis (CS), a heterogeneous craniofacial disorder caused by premature fusion of cranial sutures, is sub-classified anatomically by suture involvement (sagittal, metopic, coronal, lambdoid) and phenotypically into isolated/non-syndromic forms or syndromic (CS with extracranial anomalies). Pathogenic variants in multiple genetic loci have been implicated in CS, with particular significance attributed to allelic variants in IL11RA (interleukin-11 receptor alpha subunit; OMIM#600939). Clinical observations of individuals with IL11RA mutations indicate syndromic CS, characterized by dental anomalies and Crouzon-like facial features.

Methods

Genetic analyses were carried out utilizing whole-exome sequencing, with subsequent validation through direct Sanger se

SUBMITTER: Liu Z 

PROVIDER: S-EPMC12067187 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature