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The role of vertebrate models in understanding craniosynostosis

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Abstract

Background

Craniosynostosis (CS), the premature fusion of cranial sutures, is a relatively common pediatric anomaly, occurring in isolation or as part of a syndrome. A growing number of genes with pathologic mutations have been identified for syndromic and nonsyndromic CS. The study of human sutural material obtained post-operatively is not sufficient to understand the etiology of CS, for which animal models are indispensable.

Discussion

The similarity of the human and murine calvarial structure, our knowledge of mouse genetics and biology, and ability to manipulate the mouse genome make the mouse the most valuable model organism for CS research. A variety of mouse mutants are available that model specific human CS mutations or have CS phenotypes. These allow characterization of the biochemical and morphological events, often embryonic, which precede suture fusion. Other vertebrate organisms have less functional genetic utility than mice, but the rat, rabbit, chick, zebrafish, and frog provide alternative systems in which to validate or contrast molecular functions relevant to CS.

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Acknowledgments

The author would like to thank Dr. Ethylin Wang Jabs, Dr. Peter J. Taub, and Dr. Alka Mansukhani for critical reading of the manuscript.

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  1. Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, One Gustave L. Levy Place, 1428 Madison Avenue, New York, NY, 10029, USA

    Greg Holmes

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Holmes, G. The role of vertebrate models in understanding craniosynostosis. Childs Nerv Syst 28, 1471–1481 (2012). https://doi.org/10.1007/s00381-012-1844-3

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