Beyond the closed suture in apert syndrome mouse models: evidence of primary effects of FGFR2 signaling on facial shape at birth.
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| Abstract |
Apert syndrome is a congenital disorder caused mainly by two neighboring mutations on fibroblast growth factor receptor 2 (FGFR2). Premature closure of the coronal suture is commonly considered the identifying and primary defect triggering or preceding the additional cranial malformations of Apert phenotype. Here we use two transgenic mouse models of Apert syndrome, Fgfr2(+/S252W) and Fgfr2(+/P253R), to explore variation in cranial phenotypes in newborn (P0) mice. Results show that the facial skeleton is the most affected region of the cranium. Coronal suture patency shows marked variation that is not strongly correlated with skull dysmorphology. The craniofacial effects of the FGFR2 mutations are similar, but Fgfr2(+/S252W) mutant mice display significantly more severe dysmorphology localized to the posterior palate. Our results demonstrate that coronal suture closure is neither the primary nor the sole locus of skull dysmorphology in these mouse models for Apert syndrome, but that the face is also primarily affected.
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| Authors | Neus Martínez-Abadías, Christopher Percival, Kristina Aldridge, Cheryl A Hill, Timothy Ryan, Satama Sirivunnabood, Yingli Wang, Ethylin Wang Jabs, Joan T Richtsmeier |
| Journal | Developmental dynamics : an official publication of the American Association of Anatomists (Dev Dyn) Vol. 239 Issue 11 Pg. 3058-71 (Nov 2010) ISSN: 1097-0177 [Electronic] United States |
| PMID | 20842696 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't) |
| Copyright | © 2010 Wiley-Liss, Inc. |
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