Treacher Collins syndrome: etiology, pathogenesis and prevention.
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.
Trainor
Paul A
PA
Stowers Institute for Medical Research, Kansas City, MO 64110, USA. pat@stowers-institute.org
Dixon
Jill
J
Dixon
Michael J
MJ
D019066:Facies; D005260:Female; D006801:Humans; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000209:etiology* / Q000473:pathology / Q000517:prevention & control; D009154:Mutation