Brain phenotypes in two FGFR2 mouse models for Apert syndrome

Kristina Aldridge, Cheryl A. Hill, Jordan R. Austin, Christopher Percival, Neus Martinez-Abadias, Thomas Neuberger, Yingli Wang, Ethylin Wang Jabs, Joan T. Richtsmeier

Research output: Contribution to journalArticlepeer-review

34 Scopus citations


Apert syndrome (AS) is one of at least nine disorders considered members of the fibroblast growth factor receptor (FGFR) -1, -2, and -3-related craniosynostosis syndromes. Nearly 100% of individuals diagnosed with AS carry one of two neighboring mutations on Fgfr2. The cranial phenotype associated with these two mutations includes coronal suture synostosis, either unilateral (unicoronal synostosis) or bilateral (bicoronal 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 three-dimensional data on brain phenotypes of inbred mice at postnatal day 0 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. Our hypothesis is that the skull and brain are both primarily affected in craniosynostosis and that shared phenogenetic developmental processes affect both tissues in craniosynostosis of Apert syndrome.

Original languageEnglish (US)
Pages (from-to)987-997
Number of pages11
JournalDevelopmental Dynamics
Issue number3
StatePublished - Mar 2010
Externally publishedYes


  • Apert syndrome
  • Brain
  • Craniosynostosis
  • Development
  • Mouse
  • Skull
  • Suture

ASJC Scopus subject areas

  • Developmental Biology


Dive into the research topics of 'Brain phenotypes in two FGFR2 mouse models for Apert syndrome'. Together they form a unique fingerprint.

Cite this