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Tissue-specific responses to aberrant FGF signaling in complex head phenotypes.
Dev Dyn 2013; 242(1):80-94DD

Abstract

BACKGROUND

The role of fibroblast growth factor and receptor (FGF/FGFR) signaling in bone development is well studied, partly because mutations in FGFRs cause human diseases of achondroplasia and FGFR-related craniosynostosis syndromes including Crouzon syndrome. The FGFR2c C342Y mutation is a frequent cause of Crouzon syndrome, characterized by premature cranial vault suture closure, midfacial deficiency, and neurocranial dysmorphology. Here, using newborn Fgfr2c(C342Y/+) Crouzon syndrome mice, we tested whether the phenotypic effects of this mutation go beyond the skeletal tissues of the skull, altering the development of other non-skeletal head tissues including the brain, the eyes, the nasopharynx, and the inner ears.

RESULTS

Quantitative analysis of 3D multimodal imaging (high-resolution micro-computed tomography and magnetic resonance microscopy) revealed local differences in skull morphology and coronal suture patency between Fgfr2c(C342Y/+) mice and unaffected littermates, as well as changes in brain shape but not brain size, significant reductions in nasopharyngeal and eye volumes, and no difference in inner ear volume in Fgfr2c(C342Y/+) mice.

CONCLUSIONS

These findings provide an expanded catalogue of clinical phenotypes in Crouzon syndrome caused by aberrant FGF/FGFR signaling and evidence of the broad role for FGF/FGFR signaling in development and evolution of the vertebrate head.

Authors+Show Affiliations

Department of Anthropology, Pennsylvania State University, University Park, PA, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

23172727

Citation

Martínez-Abadías, Neus, et al. "Tissue-specific Responses to Aberrant FGF Signaling in Complex Head Phenotypes." Developmental Dynamics : an Official Publication of the American Association of Anatomists, vol. 242, no. 1, 2013, pp. 80-94.
Martínez-Abadías N, Motch SM, Pankratz TL, et al. Tissue-specific responses to aberrant FGF signaling in complex head phenotypes. Dev Dyn. 2013;242(1):80-94.
Martínez-Abadías, N., Motch, S. M., Pankratz, T. L., Wang, Y., Aldridge, K., Jabs, E. W., & Richtsmeier, J. T. (2013). Tissue-specific responses to aberrant FGF signaling in complex head phenotypes. Developmental Dynamics : an Official Publication of the American Association of Anatomists, 242(1), pp. 80-94. doi:10.1002/dvdy.23903.
Martínez-Abadías N, et al. Tissue-specific Responses to Aberrant FGF Signaling in Complex Head Phenotypes. Dev Dyn. 2013;242(1):80-94. PubMed PMID: 23172727.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Tissue-specific responses to aberrant FGF signaling in complex head phenotypes. AU - Martínez-Abadías,Neus, AU - Motch,Susan M, AU - Pankratz,Talia L, AU - Wang,Yingli, AU - Aldridge,Kristina, AU - Jabs,Ethylin Wang, AU - Richtsmeier,Joan T, Y1 - 2012/12/05/ PY - 2012/09/17/received PY - 2012/10/30/revised PY - 2012/11/02/accepted PY - 2012/11/23/entrez PY - 2012/11/23/pubmed PY - 2013/6/6/medline SP - 80 EP - 94 JF - Developmental dynamics : an official publication of the American Association of Anatomists JO - Dev. Dyn. VL - 242 IS - 1 N2 - BACKGROUND: The role of fibroblast growth factor and receptor (FGF/FGFR) signaling in bone development is well studied, partly because mutations in FGFRs cause human diseases of achondroplasia and FGFR-related craniosynostosis syndromes including Crouzon syndrome. The FGFR2c C342Y mutation is a frequent cause of Crouzon syndrome, characterized by premature cranial vault suture closure, midfacial deficiency, and neurocranial dysmorphology. Here, using newborn Fgfr2c(C342Y/+) Crouzon syndrome mice, we tested whether the phenotypic effects of this mutation go beyond the skeletal tissues of the skull, altering the development of other non-skeletal head tissues including the brain, the eyes, the nasopharynx, and the inner ears. RESULTS: Quantitative analysis of 3D multimodal imaging (high-resolution micro-computed tomography and magnetic resonance microscopy) revealed local differences in skull morphology and coronal suture patency between Fgfr2c(C342Y/+) mice and unaffected littermates, as well as changes in brain shape but not brain size, significant reductions in nasopharyngeal and eye volumes, and no difference in inner ear volume in Fgfr2c(C342Y/+) mice. CONCLUSIONS: These findings provide an expanded catalogue of clinical phenotypes in Crouzon syndrome caused by aberrant FGF/FGFR signaling and evidence of the broad role for FGF/FGFR signaling in development and evolution of the vertebrate head. SN - 1097-0177 UR - https://www.unboundmedicine.com/medline/citation/23172727/Tissue_specific_responses_to_aberrant_FGF_signaling_in_complex_head_phenotypes_ L2 - https://doi.org/10.1002/dvdy.23903 DB - PRIME DP - Unbound Medicine ER -