Thomas Neuberger1, Kristina Aldridge2, Cheryl A. Hill2, Jordan A. Austin2, Timothy M. Ryan3, Christopher Percival3, Neus Martinez-Abadias3, Yingli Wang4, Ethylin Wang Jabs4, Andrew G. Webb5,6, Joan T. Richtsmeier3
1The Huck Institutes of the Life Sciences, Pennsylvania State University, University Park, PA, United States; 2University of Missouri-School of Medicine; 3Department of Anthropology, Pennsylvania State University, University Park, PA, United States; 4Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine; 5Department of Bioengineering, Pennsylvania State University, University Park, PA, United States; 6Department of Radiology, Leiden University Medical Centre, Leiden, Netherlands
Apert syndrome (AS) is one of at least nine disorders considered members of the FGFR-1,-2, and -3-related craniosynostosis syndromes. Nearly 100% of individuals diagnosed with AS have one of two neighboring mutations on Fgfr2. The cranial phenotype associated with these two mutations includes coronal suture synostosis. Brain dysmorphology associated with AS is thought to be secondary to cranial vault or base alterations, but the variation in brain phenotypes within Apert syndrome is unexplained. Here we present novel MRM and -CT 3D data on brain phenotypes of mice each carrying one of the two Fgfr2 mutations associated with AS. Our data suggest that the brain is primarily affected, rather than secondarily responding to skull dysmorphogenesis.