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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Neurofibromatosis type 1


Other Names for this Disease
  • NF1
  • Recklinghausen's disease
  • Type 1 neurofibromatosis
  • Von Recklinghausen disease
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Inheritance


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How is neurofibromatosis type 1 (NF1) inherited?

Neurofibromatosis type 1 is considered to have an autosomal dominant pattern of inheritance.[1] People with this condition are born with one mutation in the NF1 gene in each cell of the body. In about half of cases, the altered gene is inherited from an affected parent. The remaining cases result from new mutations in the NF1 gene and occur in people with no history of the disorder in their family.[1]

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 NF1 gene must be altered to trigger tumor formation in neurofibromatosis type 1.[1] A mutation in the second copy of the NF1 gene occurs during a person's lifetime in specialized cells surrounding nerves. Almost everyone who is born with one NF1 mutation acquires a second mutation in many cells and develops the tumors characteristic of neurofibromatosis type 1.[1]
Last updated: 11/9/2011

References
  1. Neurofibromatosis type 1. Genetics Home Reference. March 2007; http://ghr.nlm.nih.gov/condition=neurofibromatosistype1. Accessed 3/18/2011.