Journal article

FGFR2 mutation in 46, XY sex reversal with craniosynostosis

Stefan Bagheri-Fam, Makoto Ono, Li Li, Liang Zhao, Janelle Ryan, Raymond Lai, Yukako Katsura, Fernando J Rossello, Peter Koopman, Gerd Scherer, Oliver Bartsch, Jacob VP Eswarakumar, Vincent R Harley

Human Molecular Genetics | OXFORD UNIV PRESS | Published : 2015

Abstract

Patients with 46,XY gonadal dysgenesis (GD) exhibit genital anomalies, which range from hypospadias to complete male-to-female sex reversal. However, a molecular diagnosis is made in only 30% of cases. Heterozygous mutations in the human FGFR2 gene cause various craniosynostosis syndromes including Crouzon and Pfeiffer, but testicular defects were not reported. Here, we describe a patient whose features we would suggest represent a new FGFR2-related syndrome, craniosynostosis with XY male-to-female sex reversal or CSR. The craniosynostosis patient was chromosomally XY, but presented as a phenotypic female due to complete GD. DNA sequencing identified the FGFR2c heterozygous missense mutation..

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University of Melbourne Researchers

Grants

Awarded by National Health and Medical Research Council (NHMRC, Australia)


Awarded by NHMRC


Awarded by National Institute of Dental and Craniofacial Research (NIDCR)


Awarded by NHMRC (Australia)


Awarded by NATIONAL INSTITUTE OF DENTAL & CRANIOFACIAL RESEARCH


Funding Acknowledgements

This work was supported by the National Health and Medical Research Council (NHMRC, Australia) Program Grant 1074258 to V.R.H. and P.K., NHMRC, Project Grant 1058548 to V.R.H. and S.B.-F., the Victorian Government's Operational Infrastructure Support Program and the National Institute of Dental and Craniofacial Research (NIDCR) Grant DE020823 to J.V.P.E. V.R.H. is the recipient of the NHMRC (Australia) Research Fellowship 441102.