FGF9 signalling and sex reversal

Project description

We have identified the first FGFR2 mutation in an XY female intersex patient. A heterozygous FGFR2c-C342S mutation in a patient with both 46,XY gonadal dysgenesis and Crouzon syndrome, is unusual since gonadal defects have not yet been reported in Crouzon syndrome patients. We now focus on FGF9, the ligand of FGFR2c. We have identified 3 Fgf9 missense variants affecting sex determination in knock-in mouse models. Analyses of male and female markers will be carried out, as well as markers of FGF signalling. Training includes basic cell and molecular biology as well as: embryonic microdissection, whole mount/section in situ hybridisation and immunofluorescence. See: Bagheri-Fam S et al (2015) FGFR2 mutation in 46,XY sex reversal with craniosynostosis. Hum Mol Genet 24:6699-6710.