Treacher Collins Syndrome: The TCOF1 gene provides instructions for making a protein called treacle.
Treacher Collins syndrome is a condition which affects the development of bones causing problems in the structure of the face. Some people with this condition have underdeveloped facial bones while some may have an opening in the roof of the mouth. In severe cases, the infant’s airways may get restricted by the underdeveloped facial bones causing potentially life threatening respiratory problems.
The condition is caused by a defective protein called treacle. Treacher-collins syndrome is a hereditary disease which is passed down through families.
Some of the common symptoms of treacher Collins syndrome include:
- Abnormal ears
- Hearing loss
- Small jaw
- Large Mouth
- Defected lower eyelid
- Scalp hair that reaches to the cheeks
- Cleft Palate
Genes which are related to Treacher Collins Syndrome
This condition is caused by genes like TCOFI, POLRIC or POLRID. Treacher Collins syndrome is commonly caused by the mutations of the TCOFI gene. It accounts for the around 81 to 93 percent of all the cases. While the other two genes POLRIC and POLRID gene mutations cause an additional 2 percent of cases. The protein produced from the TCOFI, POLRIC and POLRID genes play important roles in the early development of bones and other tissues of the face and are involved in the production of a molecule called ribosomal RNA.
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