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neurofibromatosis type1 genetics

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by

Raul Larios

on 23 April 2010

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Transcript of neurofibromatosis type1 genetics

Neurofibromatosis type 1 The symptoms to this disease are variations in skin pigmentation, growth of tumors along nerves, high blood pressure, short stature, an unusally large head, skeletal abnormalities, and attemtion deficit hyperactivity disorder The varying skin pigmentation can be found anywhere on the body, and so can the tumors These symptoms arrive at an early childhood, predominantly dark flat spots on the skin. When the person with this diseases reaches adulthood they start to develop neurofibromas (benign tumors) which are usually located on or under the skin. Although it is possible that these tumors appear in other parts of the body along nerves. On occasion, these tumors are malignant. People with NF type 1 have an increased risk of developing different types of cancers during childhood, its possible that Lisch nodules appear in the iris of the eye, but do not interfere with the vision itself. Some of the tumors that are developed in the nerve leading from the eye to the brain can cause damaged eyesight or even total vision loss. This mutation occurs in the NF1 gene, and this gene creates neurofibromin, a protein that acts as a tumor suppressant. This means that it keeps cells from dividing too rapidly. This disease causes the NF1 gene to produce a non-functional version of Neurofibromin Approximately half the cases are because of inheritance from one parent, and the others are people with no family history of the disease
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