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A brother, sister, or parent of a person who has a mutation also has a 50% chance of having the same mutation. Therefore, a child who has a parent with a mutation has a 50% chance of inheriting that mutation. This means that a parent with an NF2 mutation may pass along a copy of their normal gene or a copy of the changed gene with. NF2 follows an autosomal dominant inheritance pattern, in which a change, also called a mutation or alteration, happens in only 1 copy of the gene. Normally, every cell has 2 copies of each gene: 1 inherited from the mother and 1 inherited from the father. Research is ongoing to learn more about the causes of NF2. Most people with NF2 have a mutation in the NF2 gene. A mutation (alteration) in the NF2 gene, which is a “tumor suppressor,” gives a person an increased risk of developing cancerous and benign tumors and other symptoms of NF2. The gene is noted in italics to help distinguish the gene from the condition. The gene associated with NF2 is also called NF2. This means that the cancer risk and other features of NF2 can be passed from generation to generation in a family. The number of features present and the severity of symptoms can vary among people with NF2, even within the same family. Multiple features have been associated with NF2, but the overall cancer risk is low. Signs of NF2 usually develop in the late teenage years or early 20s. This feature is similar to those individuals with Neurofibromatosis Type 1, but people with NF2 usually have fewer café-au-lait spots than people with NF1. They may have café-au-lait spots, which are light brown pigmentation, the color of “coffee with milk”.
#NS2 DISEASE SKIN#
People with NF2 are at an increased risk of developing cataracts in the eyes and benign skin tumors. Gliomas, including ependymomas of the brain or spinal cord Meningiomas, a slow-growing tumor that usually develops on the surface of the brain
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Other nervous system tumor types include: These tumors are generally not cancerous, but they may still lead to significant medical problems, especially if there are multiple tumors in or next to the brain. People affected by NF2 also have an increased risk of other tumors of the nervous system. Although these tumors are benign, they can cause hearing and balance problems. These are benign (noncancerous) tumors that occur on the nerves for balance and hearing leading to the inner ear.
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Neurofibromatosis type 2 (NF2) is a hereditary condition most commonly associated with bilateral vestibular schwannomas, also known as acoustic neuromas.