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Common skeletal features in rare diseases: New links between ciliopathies and FGF-related syndromes

Research output: Contribution to journalArticle

Original languageEnglish
Article numbere27109
Number of pages6
JournalRare Diseases
Issue number1
StateE-pub ahead of print - 11 Nov 2013


  • rdis-1-e27109

    rdis_1_e27109.pdf, 660 KB, application/pdf


    Final published version

    © 2013 landes Bioscience

King's Authors


Congenital skeletal anomalies are rare disorders, with a subset affecting both the cranial and appendicular skeleton. Two categories, craniosynostosis syndromes and chondrodysplasias, frequently result from aberrant regulation of the fibroblast growth factor (FGF) signaling pathway. Our recent work has implicated FGF signaling in a third category: ciliopathic skeletal dysplasias. In this work, we have used mouse mutants in two ciliopathy genes, Fuzzy (Fuz) and orofacial digital syndrome-1 (Ofd-1), to demonstrate increase in Fgf8 gene expression during critical stages of embryogenesis. While the mechanisms underlying FGF dysregulation differ in the different syndromes, our data raise the possibility that convergence on FGF signal transduction may underlie a wide range of skeletal anomalies. Here, we provide additional evidence of the skeletal phenotypes from the Fuz mouse model and highlight similarities between human ciliopathies and FGF-related syndromes.

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