Treacher Collins Syndrome: A Literature Review

1. Many experiments were conducted during the 1950s and 1960s with chick embryos and they showed that two patches of tissue essentially controlled the development of the pattern of bones inside limbs.  Describe at

Below I have explained the sequence and rate of each development from birth – 19 years old in great detail.

The cleft needs to be repaired (through surgical interventions like palatoplasty) because it’s extremely important for feeding and swallowing, as well as speech. Similar to sleep, without sufficient nutrition, an individual will not be able to fully develop. A lack of sufficient nutrition will affect an individual’s cognitive ability, as well as their physical health. This is why surgical intervention is such a critical component of the process and one of the steps that is completed earlier on in the process. In addition to cleft palates, velopharyngeal insufficiency is a common symptom for about forty percent of individuals with TCS, and is often related to a cleft palate. Velopharyngeal insufficiency can be related to issues with breathing and feeding. It is also related to articulation problems and hypernasality. The articulation issues are likely due to the lack of ability to build pressure and without pressure consonants are altered (Goorhuis-Brouwer & Priester, 2008,

In the first month of pregnancy head and trunk appear and tiny arm buds begin to form, followed by leg buds. The early embryo seems to have a "tail", but this is really a protective covering for the spinal cord because the central nervous system (brain, spine and spinal cord) is so important. At this point of development the structures that eventually form the face and neck are becoming

Cin1 exists as Cin1-S (short-form) and Cin1-L (long-form) isoforms as a result of alternative splicing of intron #6. Cin1-S differs from Cin1-L by lacking the C-terminal RhoGEF (DH)-PH domain. We previously generated a CIN1-S mutant strain by replacing the C-terminus with an NAT marker gene. Significantly, we have found that Cin1-S confers a survival advantage over WT in the mouse brain via co-infection. Further investigation will include constructing a mutant expressing the long isoform Cin1-L. We have generated a partial CIN1-L point-mutation allele linked to G418 resistance, but have yet to obtain the Cin1-L mutant through the conventional gene replacement method. Recently, we have developed a one-step CRISPR-CAS9 technique for mutagenesis in Cn. In this aim, we will generate the Cin1-L mutant, characterize its function, and perform co-infection assays. Moreover, we will perform dual RNA-Seq to profile whether there is differential gene expression in infection by Cin1-S and Cin1-L in order to address the mechanism associated with Cin1-S CNS survival

August Pullman is a 5th grader that has Treacher Collins syndrome. It’s a disease that causes someone’s face to be deformed. This prevents Auggie from going to school. But his family wants him to try it out. He has some good times but most of the time, he doesn’t enjoy it. In this essay, i will be talking about the times that he wasn’t enjoying it. And for these reasons, that’s why i choose for him not to go to school .

These characteristics can gradually diminish as the child ages, but it is important to note that diagnosis does not change because of this.

Treacher Collins disease is a rare, congenital, craniofacial condition affecting bones, jaws, skin, and muscles of the face. This disorder is caused by a mutation in the gene on chromosome 5. This chromosome affects facial development. This mutation can appear new or be passed on. A person with Treacher Collins has a 50/50 chance of passing it on to their offspring. This disorder comes along with many symptoms such as small or missing ears, no ear canals, missing brow and cheek bones, speech and swallowing problems, coloboma of the eyelids, wide mouth which gives limited mouth opening, dry eye syndrome (causes infections) and downward sloping eyes. Persons with this disease can be born blind, deaf, suffer from depression and/or are unable to

Warren Tay, an English physician who first described the symptomatic cherry-red eye in 1881 (Edelson, 1997). Research later in the 20th century illustrated that Tay-Sachs disease is a genetic disorder caused by a mutation in the HEXA gene on chromosome 15. Many other HEXA mutations have been discovered since then, including different mutations within different populations. Being an autosomal recessive disorder, for an individual to exhibit symptoms it is required to have two Tay-Sachs alleles affected, meaning that when both parents are carriers, the offspring have a 25% of being affected. This disease has shown to be prevalent in certain populations in recent years. Those of Ashkenazi Jewish descent are one of these populations, being more prone to the infantile form of Tay-Sachs disease, caused by a base pair insertion leading to the mutation. More research has led us to believe that compound heterozygosity is ultimately responsible for the disease’s variability among different populations. Those who are heterozygous carriers tend to exhibit abnormal enzyme activity but never show true disease symptoms. This is due to the dominance phenomenon, and with Tay-Sachs being recessive autosomal, it requires

How would you like your life being in danger right after you’re born because you can’t breathe? Treacher Collins syndrome (TCS) causes underdevelopment of facial bones that could threaten an infant’s life by making it difficult to breathe. If the baby lives past this point they will have many facial deformities. Treacher Collins syndrome happens because of a mutation in TCOF1, POLR1C, or the POLR1D genes. TCS causes an underdeveloped facial bone, a small jaw and chin, an opening in the top of the mouth called cleft palate, eyes that slant downward, few eyelashes, a notch in the lower eyelid called a coloboma, eye abnormalities can cause vision loss, and unusually shaped ears lead to hear problems. All of these problems are linked with Treacher

The question that next needs to be asked is why is this important, what does the gene mutation actually do? What is being suggested is that when the gene mutated, there was less muscles pulling and attached on the cranial bone of our ancestors. And because muscles can stunt bone growth and will sculpt the bones that it is attached to. It can have a crucial role in bone growth, in this case skull growth. When the head structures of the macaque (as well as other primates) were compared to humans, it was seen that the crests on the heads differed as well. The large crests on the macaque exemplify the how jaw muscles attach to the head and leave little room for the brain, and this crest is close to non-existent in human heads for smaller, less powerful jaws. By having smaller muscles there are smaller anchors attached to the head and the skull is free to grow into a round shape. It is thus suspected that powerful jaws are incompatible with large powerful brains (Hopkin).

Folds running from the mouth to the chin and/or the nose to the mouth (melolabial and nasolabial folds)

When you say the word craniofacial, instantly what comes to your mind is the head or face. Yes, this is true. Craniofacial relates to the parts of your skull and face. When there is any abnormal growth and development in your face or head, it is then called craniofacial syndrome.

At 2 weeks, Melanie’s cells first started the miraculous transformation process of changing into the specialized cells that form all the parts of her body. At magnificent speed, cells begin to migrate forming three layers. Each of the layers are assigned to build something, the top layer are the cells that make skin, hair, teeth, and brain. When the cells in Melanie’s surface

Whereas ABCE1's weak intrinsic ATPase activity is strongly activated by eRF1-bound ribosomes, stimulation by 40S subunits is weak, even though they bind strongly to ABCE1 (Pisarev et al, 2010).