Weaver Syndrome

Review of Gene Discovered for weaver Syndrome
In 1974, Dr. David weaverbird 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 distinct facial appearance, and a developmental delay. The actual produce of this syndrome remained unknow until a element was discover in modern 2011 that shed some light on where this disease comes from. On December 15, 2011 an article was posted in the American journal of Human Genetics that identified a transmutation in the EZH2 gene as a major cause of this disorder.
When testing for genetic disorders scientists usually do so by hobby a gene throughout a familys history. However, with Weaver syndrome it is nearly pointless to do this because the disorder is only known to happen once in a family. There were families from 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 cancers. 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 mutations that occur in the EZH2 gene later on in life can cause cancer and when it occurs during the prenatal stage of life it causes Weaver syndrome. The breakthrough of this gene overt doors to a new way to diagnose the disease. Before this discovery doctors used 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 a full essay, order it on our website: Ordercustompaper.com



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