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Diseases

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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Inheritance


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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.[1] 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.[1]
Last updated: 4/10/2011

References
  1. Neurofibromatosis type 2. Genetics Home Reference. March 2007; http://ghr.nlm.nih.gov/condition/neurofibromatosis-type-2. Accessed 4/8/2011.