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.