Gain-of-function variants and overexpression of RUNX2 in patients with nonsyndromic midline craniosynostosis.

ABSTRACT: Craniosynostosis (CS), the premature fusion of one or more cranial sutures, is a relatively common congenital anomaly, occurring in 3-5 per 10,000 live births. Nonsyndromic CS (NCS) accounts for up to 80% of all CS cases, yet the genetic factors contributing to the disorder remain largely unknown. The RUNX2 gene, encoding a transcription factor critical for bone and skull development, is a well known CS candidate gene, as copy number variations of this gene locus have been found in patients with syndromic craniosynostosis. In the present study, we aimed to characterize RUNX2 to better understand its role in the genetic etiology and in the molecular mechanisms underlying midline suture ossification in NCS. We report four nonsynonymous variants, one intronic variant and one 18 bp in-frame de

SUBMITTER: Cuellar A 

PROVIDER: S-EPMC7358991 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature