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Critical Reviews™ in Eukaryotic Gene Expression

Impact factor: 1.660

ISSN Print: 1045-4403
ISSN Online: 2162-6502

Critical Reviews™ in Eukaryotic Gene Expression

DOI: 10.1615/CritRevEukarGeneExpr.v16.i2.20
pages 119-142

Genetic Defects in the Development of the Skull Vault in Humans and Mice

Pieter Verdyck
Department of Medical Genetics, University of Antwerp (UA), Antwerp, Belgium
Wim Wuyts
Department of Medical Genetics, University of Antwerp (UA); and Department of Medical Genetics, University Hospital of Antwerp (UZA), Antwerp, Belgium
Wim Van Hul
Department of Medical Genetics, University of Antwerp (UA) and Department of Medical Genetics, University Hospital of Antwerp (UZA)

ABSTRACT

Using a genetic approach, an increasing number of genes has been shown to be important for proper skull vault development. In this review, we discuss the genes involved in disorders of the dermal skull vault in humans, including craniosynostosis and skull ossification defects, and supplement this with data from transgenic and knockout mouse models. These studies have shown the importance of signaling mediated by fibroblast growth factors (FGFs), bone morphogenic proteins (BMPs), and transforming growth factor (TGF)-β. In addition, some insights into the disease mechanisms leading to skull vault disorders are beginning to be discovered.