Weaver Syndrome

Review of Gene Discovered for weaver Syndrome In 1974, Dr. David weaver of the Indiana University School of Medicine discovered what is now referred to as Weaver syndrome. Weaver syndrome is a divisortic disorder that begins in a antepartum state. It is associated with rapid growth, problems in bone development, a transparent facial appearance, and a developmental delay. The actual produce of this syndrome remained unknow until a element was discover in modern 2011 that shed just about light on where this disease comes from. On December 15, 2011 an obligate was posted in the American journal of Human componenttics that identified a transmutation in the EZH2 element as a major cause of this disorder. When testing for transmitted disorders scientists unremarkably do so by hobby a gene throughout a familys history. However, with Weaver syndrome it is nearly insensible to do this because the disorder is only known to happen once in a family. There were families f rom Canada and the united states chosen by Dr. Gibson, the studys lead investigator, to enter in the study. The genetic mutation is thought to be carried in the sperm or egg cell when the child is conceived.

Scientists compared the EZH2 gene of the children with Weaver syndrome to the EZH2 gene in their parents and found out that the mutation was, in fact, a brand new mutation. EZH2 is also the gene that can be associated with leukemia, B-cell lymphomas, and other blood malignant neoplastic diseases. The finding of this gene and its association with cancer and with Weaver syndrome helps merge the relationship in the midst of developmental disorders and cancer. It is believed that m! utations that occur in the EZH2 gene later on in life can cause cancer and when it occurs during the prenatal arrange of life it causes Weaver syndrome. The breakthrough of this gene overt doors to a new way to discover the disease. Before this discovery doctors utilise to rely on the assessment of various visible deformations to diagnose Weaver syndrome. There were problems with the size of...If you want to pay back down a full essay, order it on our website: BestEssayCheap.com

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