An inherited FGFR2 mutation increased osteogenesis gene expression and result in Crouzon syndrome.

ABSTRACT: BACKGROUND:FGFR2 encodes a fibroblast growth factor receptor whose mutations are responsible for the Crouzon syndrome, involving craniosynostosis and facial dysostosis with shallow orbits. However, few reports are available quantifying the orbital volume of Crouzon syndrome and there was little direct evidence to show FGFR2 mutation actually influencing orbital morphology. METHODS:Ten Crouzon syndrome patients underwent a standard ophthalmologic assessment. Morphology study was carried out based on 3-dimensional computed tomography scan to calculate orbital volume. Genomic DNA was extracted from peripheral blood leukocytes of the patients and genomic screening of FGFR2. A three-dimensional computer model was used to analyse the structural positioning of the mutation site that was predicted

SUBMITTER: Fan J 

PROVIDER: S-EPMC5975660 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature