Postnatal brain and skull growth in an Apert syndrome mouse model

Cheryl A Hill, Neus Martínez-Abadías, Susan M. Motch, Jordan R. Austin, Yingli Wang, Ethylin Wang Jabs, Joan T. Richtsmeier, Kristina Aldridge

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Craniofacial and neural tissues develop in concert throughout prenatal and postnatal growth. FGFR-related craniosynostosis syndromes, such as Apert syndrome (AS), are associated with specific phenotypes involving both the skull and the brain. We analyzed the effects of the FGFR P253R mutation for AS using the Fgfr2+/P253R Apert syndrome mouse to evaluate the effects of this mutation on these two tissues over the course of development from day of birth (P0) to postnatal day 2 (P2). Three-dimensional magnetic resonance microscopy and computed tomography images were acquired from Fgfr2+/P253R mice and unaffected littermates at P0 (N=28) and P2 (N=20).Three-dimensional coordinate data for 23 skull and 15 brain landmarks were statistically compared between groups. Results demonstrate that the Fgfr2+/P253R mice show reduced growth in the facial skeleton and the cerebrum, while the height and width of the neurocranium and caudal regions of the brain show increased growth relative to unaffected littermates. This localized correspondence of differential growth patterns in skull and brain point to their continued interaction through development and suggest that both tissues display divergent postnatal growth patterns relative to unaffected littermates. However, the change in the skull-brain relationship from P0 to P2 implies that each tissue affected by the mutation retains a degree of independence, rather than one tissue directing the development of the other.

Original languageEnglish (US)
Pages (from-to)745-757
Number of pages13
JournalAmerican Journal of Medical Genetics, Part A
Volume161
Issue number4
DOIs
StatePublished - Apr 2013

Fingerprint

Acrocephalosyndactylia
Skull
Brain
Growth
Mutation
Craniosynostoses
Cerebrum
Skeleton
Microscopy
Magnetic Resonance Spectroscopy
Tomography
Parturition
Phenotype

Keywords

  • Apert syndrome
  • Brain
  • Craniosynostosis
  • Development
  • Fibroblast growth factor receptor 2
  • Mouse
  • Skull
  • Suture

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Hill, C. A., Martínez-Abadías, N., Motch, S. M., Austin, J. R., Wang, Y., Jabs, E. W., ... Aldridge, K. (2013). Postnatal brain and skull growth in an Apert syndrome mouse model. American Journal of Medical Genetics, Part A, 161(4), 745-757. https://doi.org/10.1002/ajmg.a.35805

Postnatal brain and skull growth in an Apert syndrome mouse model. / Hill, Cheryl A; Martínez-Abadías, Neus; Motch, Susan M.; Austin, Jordan R.; Wang, Yingli; Jabs, Ethylin Wang; Richtsmeier, Joan T.; Aldridge, Kristina.

In: American Journal of Medical Genetics, Part A, Vol. 161, No. 4, 04.2013, p. 745-757.

Research output: Contribution to journalArticle

Hill, CA, Martínez-Abadías, N, Motch, SM, Austin, JR, Wang, Y, Jabs, EW, Richtsmeier, JT & Aldridge, K 2013, 'Postnatal brain and skull growth in an Apert syndrome mouse model', American Journal of Medical Genetics, Part A, vol. 161, no. 4, pp. 745-757. https://doi.org/10.1002/ajmg.a.35805
Hill, Cheryl A ; Martínez-Abadías, Neus ; Motch, Susan M. ; Austin, Jordan R. ; Wang, Yingli ; Jabs, Ethylin Wang ; Richtsmeier, Joan T. ; Aldridge, Kristina. / Postnatal brain and skull growth in an Apert syndrome mouse model. In: American Journal of Medical Genetics, Part A. 2013 ; Vol. 161, No. 4. pp. 745-757.
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