Confirming the Diagnosis of Treacher Collins Syndrome
How is Treacher Collins syndrome diagnosed through other means? In order to confirm the presence of the disease or to ensure that a child without prevalent signs of Treacher Collins syndrome, doctors often employ a number of technologically advanced diagnostic techniques. Commonly, physicians use either CT scanners or MRI machines to see details not available on the surface. Sometimes, they even simply take an X-ray to see bone structure, which helps identify features not readily seen from visual examinations.
Since Treacher Collins syndrome is a genetic disorder, the most successful diagnostic tool used by the medical community is a genetic test. While previously used only in special circumstances, the genetic test for Treacher Collins syndrome is now utilized on a routine basis, even occasionally conducted when the child is still developing in the womb.
Mutations in the TCOF1 gene show whether a person suffers from the disorder. This is located on the chromosome band 5q31.3-33.3. This gene is responsible for producing the codes that develop treacle protein. Treacle protein has been found to be the main active component in trafficking craniofacial development in humans. When a mutation is present in the gene, it causes the protein to prematurely terminate, preventing the proper formation of certain features.
The diagnostic procedure can identify which of the 20 known mutations are present in the gene, although the exact effects between the different types are not specific. Five of the mutations are insertions, 11 are deletions, two are spicing mutations and two are considered nonsense. Each of these results in the introduction of codons that call for the premature termination of the protein.
When asking “How is Treacher Collins syndrome diagnosed?" one must understand the different ways in which the medical community attempts to identify the disease. While the physical features have long been used as a preliminary diagnosis, modern technology helps in finding the exact dynamics of this genetic disorder.