Rubenstein-Taybi Syndrome Essay

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Rubenstein-Taybi Syndrome Also Known as RTS this disease is caused by a mutation in the CREBBP and EP300. The CREBBP gene is responsible for making a protein that regulates cell growth and division, its needed for normal fetal development. The EP300 gene plays much of the same role as the CREBBP gene, but is not as often the cause of Rubenstein-Taybi Syndrome. The EP300 gene, unlike the CREBBP gene controls protein development before and after birth. In many of the cases of Rubenstein-Tabi Syndrome no mutation is detected in either the CREBBP or the EP300 gene, in these cases the case is unknown but it is suspected that another unknown gene is responsible. Rubenstein-Taybi Syndrome is not inherited by the parents or caused by anything the parents did or did not do while pregnant. Most cases are caused by a single mutation in one gene. Rubenstein-Taybi Syndrome almost always occurs in cases where there is no family history of Rubenstein-Tabi Syndrome showing that family history and heredity is not a factor in contracting Rubenstein-Tabi Syndrome. It is shown that some individuals with Rubenstein-Taybi Syndrome can develop breathing problems and irregular heart beats when anesthesia or other muscle relaxers are administered. Rubenstein-Taybi Syndrome was first discovered in 1965 by doctors Jack Rubenstein and Hooshang Taybi. Rubenstein-Taybi Syndrome is a very uncommon disorder it only occurs in approximately 1 in every 300,000 births. Rubenstein-Taybi Syndrome may be recognized at birth by having a different physical appearance to family members but is not usually diagnosed until a child with Rubenstein-Taybi Syndrome is about 15 months of age. Rubenstein-Taybi Syndrome causes physical deformities some of which include an undersized head, a small mouth, down slanting eyes, a thick scalp, hair that extends to the fore head, a large nose.

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