Treacher Collins syndrome: Etiology, pathogenesis and prevention

Paul A. Trainor, Jill Dixon, Michael J. Dixon

    Research output: Contribution to journalArticlepeer-review

    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.
    Original languageEnglish
    Pages (from-to)275-283
    Number of pages8
    JournalEuropean Journal of Human Genetics
    Volume17
    Issue number3
    DOIs
    Publication statusPublished - 2009

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