Treacher Collins syndrome: etiology, pathogenesis and prevention

Eur J Hum Genet. 2009 Mar;17(3):275-83. doi: 10.1038/ejhg.2008.221. Epub 2008 Dec 24.


Treacher Collins syndrome (TCS) is a rare congenital disorder of craniofacial development that arises as the result of mutations in the TCOF1 gene, which encodes a nucleolar phosphoprotein known as Treacle. Individuals diagnosed with TCS frequently undergo multiple reconstructive surgeries, which are rarely fully corrective. Identifying potential avenues for rescue and/or repair of TCS depends on a profound appreciation of the etiology and pathogenesis of the syndrome. Recent research using animal models has not only determined the cellular basis of TCS but also, more importantly, unveiled a successful avenue for therapeutic intervention and prevention of the craniofacial anomalies observed in TCS.

Publication types

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

MeSH terms

  • Facies
  • Female
  • Humans
  • Male
  • Mandibulofacial Dysostosis / etiology*
  • Mandibulofacial Dysostosis / pathology
  • Mandibulofacial Dysostosis / prevention & control
  • Mutation