M Cornille1, E Dambroise1, D Komla-Ebri2, N Kaci3, M Biosse-Duplan1, F Di Rocco4, L Legeai-Mallet5. 1. Inserm U1163, Paris university, institut Imagine, 75015 Paris, France. 2. Inserm U1163, Paris university, institut Imagine, 75015 Paris, France; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, W12 ONNLondon, United Kingdom. 3. Inserm U1163, Paris university, institut Imagine, 75015 Paris, France; Inovarion, 75013 Paris, France. 4. Centre de référence craniosténoses, université de Lyon, 69677 Bron France; Service de neurochirurgie pédiatrique, université Lyon, hôpital Femme-Mère-Enfant, 69677, Bron, France. Electronic address: federico.dirocco@chu-lyon.fr. 5. Inserm U1163, Paris university, institut Imagine, 75015 Paris, France. Electronic address: laurence.legeai-mallet@inserm.fr.
Abstract
BACKGROUND: Various animal models mimicking craniosynostosis have been developed, using mutant zebrafish and mouse. The aim of this paper is to review the different animal models for syndromic craniosynostosis and analyze what insights they have provided in our understanding of the pathophysiology of these conditions. MATERIAL AND METHODS: The relevant literature for animal models of craniosynostosis was reviewed. RESULTS: Although few studies on craniosynostosis using zebrafish were published, this model appears useful in studying the suture formation mechanisms conserved across vertebrates. Conversely, several mouse models have been generated for the most common syndromic craniosynostoses, associated with mutations in FGFR1, FGFR2, FGFR3 and TWIST genes and also in MSX2, EFFNA, GLI3, FREM1, FGF3/4 genes. The mouse models have also been used to test pharmacological treatments to restore craniofacial growth. CONCLUSIONS: Several zebrafish and mouse models have been developed in recent decades. These animal models have been helpful for our understanding of normal and pathological craniofacial growth. Mouse models mimicking craniosynostoses can be easily used for the screening of drugs as therapeutic candidates.
BACKGROUND: Various animal models mimicking craniosynostosis have been developed, using mutant zebrafish and mouse. The aim of this paper is to review the different animal models for syndromic craniosynostosis and analyze what insights they have provided in our understanding of the pathophysiology of these conditions. MATERIAL AND METHODS: The relevant literature for animal models of craniosynostosis was reviewed. RESULTS: Although few studies on craniosynostosis using zebrafish were published, this model appears useful in studying the suture formation mechanisms conserved across vertebrates. Conversely, several mouse models have been generated for the most common syndromic craniosynostoses, associated with mutations in FGFR1, FGFR2, FGFR3 and TWIST genes and also in MSX2, EFFNA, GLI3, FREM1, FGF3/4 genes. The mouse models have also been used to test pharmacological treatments to restore craniofacial growth. CONCLUSIONS: Several zebrafish and mouse models have been developed in recent decades. These animal models have been helpful for our understanding of normal and pathological craniofacial growth. Mouse models mimicking craniosynostoses can be easily used for the screening of drugs as therapeutic candidates.