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

BMC Medical Genetics
Jiayan FanXianqun Fan

Abstract

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. 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 possible impact on functional of FGFR2 protein. Real-time PCR was performed to analyse the expression of bone maker gene. We describe a FGFR2 mutation (p.G338R, c.1012G > C) in a Chinese family with Crouzon syndrome. Computational analysis showed the mutate protein obviously changes in the local spatial structure compared with wild-type FGFR2. The expression of osteocalcin and alkaline phosphatase two osteoblast specific genes significantly increased in orbital...Continue Reading

References

Feb 1, 1996·Prenatal Diagnosis·M SchwartzF Skovby
Nov 23, 2005·Bioinformatics·Konstantin ArnoldTorsten Schwede
Jul 12, 2007·Molecular Medicine·Roberto D FanganielloMaria Rita Passos-Bueno
Dec 15, 2010·Translational Research : the Journal of Laboratory and Clinical Medicine·Jia-Yan FanXian-Qun Fan
Sep 24, 2015·Journal of Anatomy·Yongrong JiXianqun Fan

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