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Genetic and Rare Diseases Information Center (GARD)

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Neurofibromatosis


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How is neurofibromatosis inherited?

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What is neurofibromatosis?

Neurofibromatosis (NF) is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin. Tumors, or neurofibromas, grow along the body's nerves or on or underneath the skin.[1] There are three types of neurofibromatosis:[2][3]

Neurofibromatosis can either be an inherited disorder or the product of a gene mutation. Both NF1 and NF2 are caused by two separate abnormal genes and may be inherited from parents who have NF or may be the result of a mutation in the sperm or egg cells. NF is considered an autosomal dominant disorder.The gene for NF1 is located on chromosome 17. The gene for NF2 is located on chromosome 22.[1] There is no cure for neurofibromatosis. Treatment is aimed at controlling symptoms. Depending on the type of disease and how bad it is, treatment may include surgery to remove tumors, radiation therapy and medicines.[2][3]

Last updated: 2/10/2010

How is neurofibromatosis inherited?

Neurofibromatosis (NF) can either be an inherited disorder or the product of a gene mutation. Both NF1 and NF2 are caused by two separate abnormal genes and may be inherited from parents who have NF or may be the result of a mutation in the sperm or egg cells (germline mosaicism). NF is considered an autosomal dominant disorder because the gene is located on one of the 22 chromosome pairs, called autosomes.The gene for NF1 is located on chromosome 17. The gene for NF2 is located on chromosome 22.[1]
Last updated: 2/10/2010

What does this mean for families affected by neurofibromatosis?

Children have a 50 percent chance of inheriting the genes that cause neurofibromatosis (NF) if the parent has NF. The type of NF the child inherits will be the same as that of the parent. Therefore, if the parent has NF1, there will be a 50 percent chance the child will have NF1. If the parent has NF2, there will be a 50 percent chance the child will have NF2. The only difference between the child and the parent in these circumstances is the severity of NF and the appearance of symptoms. The presence of only one changed or affected gene can cause the disorder to appear.[1]

People with NF can make two different kinds of reproductive cells: one that can cause a child to have NF and the other that will produce an unaffected child, if that is the gene that happens to be used. When an unaffected individual conceives a child with a person with NF, there are four possible cell combinations - two combinations that will yield a child with NF and the other two that will yield an unaffected child.[1]

More information about the genetics of NF1 and NF2 can be found at the following links to reports from GeneReviews, a resource that provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. 

NF1: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=nf1#nf1.Genetic_Counseling
NF2: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=nf2#nf2.Genetic_Counseling  

Last updated: 2/10/2010

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