Overexpression of Fgfr2c causes craniofacial bone hypoplasia and ameliorates craniosynostosis in the Crouzon mouse.

ABSTRACT: FGFR2c regulates many aspects of craniofacial and skeletal development. Mutations in the FGFR2 gene are causative of multiple forms of syndromic craniosynostosis, including Crouzon syndrome. Paradoxically, mouse studies have shown that the activation (Fgfr2c^C342Y; a mouse model for human Crouzon syndrome), as well as the removal (Fgfr2c^null), of the FGFR2c isoform can drive suture abolishment. This study aims to address the downstream effects of pathogenic FGFR2c signalling by studying the effects of Fgfr2c overexpression. Conditional overexpression of Fgfr2c (R26R^Fgfr2c;βact) results in craniofacial hypoplasia as well as microtia and cleft palate. Contrary to Fgfr2c^null and Fgfr2c^C342Y

SUBMITTER: Lee KKL 

PROVIDER: S-EPMC6262810 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature