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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Treacher Collins syndrome


Other Names for this Disease

  • Mandibulofacial dysostosis
  • MFD1
  • TCOF
  • TCS
  • Treacher Collins-Franceschetti syndrome
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Cause

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What causes Treacher Collins syndrome?

Treacher Collins syndrome is cause by mutations in the TCOF1 gene. The TCOF1 gene provides instructions for making a protein called treacle. Although researchers have not determined the precise function of this protein, they believe that it plays a critical role before birth in the development of bones and other tissues in the face. Mutations in the TCOF1 gene reduce the amount of treacle that is produced in cells. Researchers believe that a loss of this protein signals cells that are important for the development of facial bones to self-destruct (undergo apoptosis). This abnormal cell death may lead to the specific problems with facial development found in Treacher Collins syndrome.[1]
Last updated: 2/28/2011

References
  1. Treacher Collins syndrome. Genetics Home Reference (GHR). 2006; http://ghr.nlm.nih.gov/condition/treacher-collins-syndrome. Accessed 2/28/2011.


Other Names for this Disease
  • Mandibulofacial dysostosis
  • MFD1
  • TCOF
  • TCS
  • Treacher Collins-Franceschetti syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.