Neurofibromatosis

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Jordan Miller

Period 1

Neurofibromatosis[pic]

A mutation in the neurofibromin gene on chromosome 17q11.2.

Effects / Symptoms

Neurofibromatosis causes a deficiency targeting the nervous system as part of a genetic disorder. The two most common types are abbreviated into NF1 and NF2. NF1 is characterized by café au lait spots, or patches of tan and light brown skin. Another characteristic would be neurofibromas, which are soft, fleshy growths that grow on the skin, and in some cases, under it. The disorder also enters the skeletal level and enlarges and distorts bones as well as adds curvature to the spine. Occasionally tumors develop on the brain or spinal cord. Half of the people with NF1 also inhibit learning disabilities. The less common disorder, NF2, characterizes itself by multiple tumors on cranial and spinal nerves. Hearing loss will nearly inevitably occur in the early teens for people with NF2.

Genetic Cause

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Most commonly Neurofibromatosis is passed on by family members through genes. However, 30 to 50% of newly diagnosed people have no family history of the condition, which can be attributed to a spontaneous mutation in the gene. Once this mutation has occurred, future generation will be at risk of getting the disorder.

Genetic Cause

The causes of Nf1 are a mutation on the 17 chromosome at q11.2. The mutation mainly affects the development of nerve cells and tissues. The changes in nerve tissues cause tumors or other abnormalities. The tumors can be harmless, in some situations. Nf1 is dominant and autosomal; meaning it will affect males and females equally. Nf2 is a slightly different. Nf2 is characterized by a mutation on the 22q12.2 chromosome. Nf2 is also autosomal dominant. The mutations has significant physical causes consisting of meningiomas and other symptoms consisting of a lot of big words that not even spell check understands. The main idea of the symptoms is that they’ll grow deformities, usually...
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