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

Treacher Collins syndrome: etiology, pathogenesis and prevention.

Author information

1
Stowers Institute for Medical Research, Kansas City, MO 64110, USA. pat@stowers-institute.org

Abstract

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.

PMID:
19107148
PMCID:
PMC2986179
DOI:
10.1038/ejhg.2008.221
[Indexed for MEDLINE]
Free PMC Article

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