Treacher Collins Syndrome is a rare genetic disorder where the skull and face form incorrectly during fetal development, which results in facial deformities. Affected individuals of Treacher Collins Syndrome have varying symptoms that range from unnoticeable to severe. The disorder is an autosomal dominant disorder affecting proteins that is found in one out of ten thousand births. It was named after Edward Treacher Collins, an English surgeon and ophthalmologist who described the traits in 1900. Although referred to as the Treacher Collins Syndrome, it is also called Franceschetti-Zwahlen-Klein syndrome or mandibulofacial dysostosis.
Inheritance and Genes:
Treacher Collins Syndrome is caused by autosomal dominant inheritance of the TCOF1 gene. The TCOF1 gene or the treacle gene is located on chromosome five. TCOF1 provides genetic information for producing a protein called the treacle. Researchers have not yet found out how this protein functions exactly, however they believe that it plays an important role before birth in the development of bones and tissues on the face of babies. Treacher Collins Syndrome is the mutations in the TCOF1 gene. This causes the amount of treacle to be reduced. Many researchers believe that whenever there is a loss of treacle protein, there is a signal that tells the cells that are important for developing facial bones and tissue to self-destruct or undergo apoptosis. Therefore the unexpected cell death during the development of a baby may lead to loss or problems with facial bones and tissue when born. Treacher Collins Syndrome is an autosomal dominant inheritance, which means that only one copy of the mutated gene is needed for the offspring to have this genetic disorder. However, about sixty percent of the patients with this disorder are new mutations of the TCOF1 gene which mutated when they were born. In these cases, the people with the disorder do not have family members that have this genetic disorder that they passed...