Treacher Collins Syndrome

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Genetic Errors
Treacher Collins Syndrome is believed to be caused by a change in the gene on chromosome 5, which affects facial development. About 40 percent of the time, one parent has the Treacher Collins Syndrome gene. Geneticists can now determine whether the Treacher Collins gene is a new mutation or one that has been passed on. There are new studies being done to see about the possibilities of there being other genes that could be involved with this syndrome.

Treacher Collins Syndrome is believed to be caused by a change in the TCOF1 gene on chromosome 5, which affects facial development. Mutations in the TCOF1 gene cause the syndrome. Most of these mutations insert or delete a small number of DNA in the TCOF1 gene, which leads to a reduction in the amount of treacle in cells. The function of the TCOF1 gene is to gives instructions for making a protein called treacle. This protein is active during early development in structures that become bones and tissues in the face. Although the exact function of this protein is unknown, researchers believe that it plays an important role in the development of facial bones and related structures. About 150 mutations in the TCOF1 gene have been identified in people with Treacher Collins syndrome.

TCOF1 is the only gene currently known to be linked with Treacher Collins syndrome. There are new studies being done to see about the possibilities of there being other genes that could be involved with this syndrome.
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