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Neurofibromatosis (NF): A Genetic Analysis

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Neurofibromatosis (NF) is an autosomal dominant genetic disorder that affects the nerve system in which symptoms are skin anomalies and tumors at any part of the human body (can be small or big ones); this disease can affect any of the two sexes (Torpy, Burke and Glass 2009). This is one of the most common genetic disorders, but it is mainly known just for the symptoms, not for the scientific cause, because people are not aware about the fact that this illness is caused by a genetic alteration. There are two types of Neurofibromatosis, NF1 and NF2, both caused by a mutation in different genes (Torpy, Burke and Glass 2009).
NF1 is the most common one, affecting approximately 1 in 3000 individuals. Most patients’ only show café au lait spots,

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Neurofibromatosis

...The neurofibromatoses (NF) are genetic disorders of the nervous system. At this time two distinct forms are known: NF1 and NF2. One baby in every four thousand is born in the United States with NF1. It is one of the most common genetic disorders, affecting some one hundred thousand americans. NF2 is less common and occurs in only one and every forty thousand births. In both forms of NF severity of symptoms vary greatly. The effects can be severely disabling, mildly disfiguring or can even go undetected. Several other names for this disorder have been used in the past but recent advancements in understanding the disorder made some of those terms obsolete. NF1 was previously known as peripheral neurofibromatosis, or von Recklinghouasen’s disease after the doctor who first described it in 1882. NF2 was called bilateral acoustic nuerofibromatosis, central neurofibromatosis, or vestibular schwannoma. NF is found in every racial and ethnic group throughout the world and affects both sexes equally. Both neurofibromatosis1 and neurofibromitosis2 are caused by abnormal genes. This disease cannot be "caught" from someone who has it already. . A common early sign of NF1 is six or more tan spots on the skin. They are called "cafe-au-lait" (French for "coffee with milk") spots. These spots are often present at birth, and may increase in size and number with age. They also may become darker. More than half of affected children have some signs ...

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