Treacher-collins syndrome

Causes

What genes cause Treacher Collins syndrome?

Most cases (71%-93%) of Treacher Collins syndrome are caused by changes (mutations) in the TCOF1 gene. This gene is located on the long arm of chromosome 5 (5q32-q33) and makes a protein called treacle. POLR1D and POLR1C are two genes that cause a smaller number of cases (about 2%) of Treacher Collins syndrome. Sometimes people with TCS do not have changes in any of these genes, therefore, there are likely more genes that cause TCS that have not been discovered yet.

To learn more about the genes that cause Treacher Collins syndrome, speak with a geneticist or genetic counselor. You can find a genetics clinic near you by searching the American College of Medical Genetics. To find a genetic counselor search on the National Society of Genetic Counselors site under "Find a Counselor".

References
  • Treacher Collins Syndrome - NORD (National Organization for Rare Disorders). (2013). Retrieved February 29, 2016, from http://rarediseases.org/rare-diseases/treacher-collins-syndrome/Katsanis SH, Jabs EW. Treacher Collins Syndrome. 2004 Jul 20 [Updated 2012 Aug 30]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1532/
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What is the function of the genes associated with Treacher Collins syndrome (TCS)?

Does anything make Treacher Collins syndrome (TCS) worse?

What is the function of the genes associated with Treacher Collins syndrome (TCS)?

There are three genes currently associated with Treacher Collins syndrome: TCOF1, POLR1D and POLR1C. TCOF1 provides instructions to make a protein called treacle. POLR1D and POLR1C make a part of two enzymes called RNA polymerase I and RNA polymerase III.

The proteins made from these three genes are involved in producing ribosomal RNA, a molecule in our cells that is related to DNA. The ribosomal RNA helps a cell build proteins from their building blocks, amino acids. Changes in these genes reduce the amount of ribosomal RNA that is made. Researchers do not yet know why this particularly influences the growth of the facial bones.

To learn more about the genes that cause Treacher Collins syndrome, speak with a geneticist or genetic counselor. You can find a genetics clinic near you by searching the American College of Medical Genetics. To find a genetic counselor search on the National Society of Genetic Counselors site under "Find a Counselor".

References
  • Treacher Collins Syndrome - NORD (National Organization for Rare Disorders). (2013). Retrieved February 29, 2016, from http://rarediseases.org/rare-diseases/treacher-collins-syndrome/
  • Katsanis SH, Jabs EW. Treacher Collins Syndrome. 2004 Jul 20 [Updated 2012 Aug 30]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1532/
Does anything make Treacher Collins syndrome (TCS) worse?

Treacher Collins syndrome (TCS) is a genetic condition that is highly variable even within a family. It has been suggested that the environmental factors and perhaps other genes could play a role in why some individuals have very mild features while some may have severe medical complications related to TCS. There is nothing specific that has been found to increase the severity.

However, many of the features of TCS benefit from early detection and treatment. For example, detection of hearing loss and treatment with hearing devices may help reduce the chance of speech delays.

To learn more about the detection and treatment of the complications that can be associated with TCS, contact a craniofacial team. You can find one by asking your doctor to recommend one in your area or by using the list provided by FACES: The National Craniofacial Association under "Medical Centers"

References
  • Treacher Collins Syndrome - NORD (National Organization for Rare Disorders). (2013). Retrieved February 29, 2016, from http://rarediseases.org/rare-diseases/treacher-collins-syndrome
  • Katsanis SH, Jabs EW. Treacher Collins Syndrome. 2004 Jul 20 [Updated 2012 Aug 30]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1532/

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