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Genetic and Rare Diseases Information Center (GARD)

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Neurofibromatosis type 2


Other Names for this Disease
  • Acoustic neurinoma bilateral
  • Acoustic schwannomas bilateral
  • Bilateral acoustic neurofibromatosis
  • Neurofibromatosis central type
  • Neurofibromatosis type II
More Names
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Overview



What is neurofibromatosis type 2?

How is neurofibromatosis type 2 inherited, and what gene is related to the condition?


What is neurofibromatosis type 2?

Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with neurofibromatosis type 2 are called vestibular schwannomas or acoustic neuromas. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve). Tumors that occur on nerves in other areas of the brain or spinal cord are also commonly seen with this condition. Mutations in the NF2 gene cause neurofibromatosis type 2. Neurofibromatosis type 2 is considered to have an autosomal dominant pattern of inheritance.[1]
Last updated: 6/6/2012

How is neurofibromatosis type 2 inherited, and what gene is related to the condition?

Neurofibromatosis type 2 is considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the NF2 gene in each cell, which is located on chromosome 22. In about half of cases, the altered gene is inherited from an affected parent. The remaining cases result from new mutations in the NF2 gene and occur in people with no history of the disorder in their family. Unlike most other autosomal dominant conditions, in which one altered copy of a gene in each cell is sufficient to cause the disorder, two copies of the NF2 gene must be altered to trigger tumor formation in neurofibromatosis type 2. A mutation in the second copy of the NF2 gene occurs in Schwann cells or other cells in the nervous system during a person's lifetime.[2] This means that the second mutation is an acquired mutation. Almost everyone who is born with one NF2 mutation acquires a second mutation in many cells and develops the tumors characteristic of neurofibromatosis type 2.[2]
Last updated: 4/10/2011

References
  1. Neurofibromatosis type 2. Genetics Home Reference (GHR). March 2007; http://ghr.nlm.nih.gov/condition=neurofibromatosistype2. Accessed 5/11/2009.
  2. Neurofibromatosis type 2. Genetics Home Reference. March 2007; http://ghr.nlm.nih.gov/condition/neurofibromatosis-type-2. Accessed 4/8/2011.