23 doctors weighed in:
Is neurofibromatosis a polygenic disorder, or is there a single mutation?
23 doctors weighed in

Dr. Scott McLean
Clinical Genetics
18 doctors agree
In brief: Single gene disorder
Neurofibromatosis type 1 is caused by a mutation of the nf1 gene on chromosome 17.
This gene normally allows your cells to make a protein called neurofibromin. So far we have found more than 500 different mutations in this gene in people with this condition. You just need one mutation to get nf1 - half the time it comes out of the blue, and half the time it's inherited from a parent.

In brief: Single gene disorder
Neurofibromatosis type 1 is caused by a mutation of the nf1 gene on chromosome 17.
This gene normally allows your cells to make a protein called neurofibromin. So far we have found more than 500 different mutations in this gene in people with this condition. You just need one mutation to get nf1 - half the time it comes out of the blue, and half the time it's inherited from a parent.
Dr. Scott McLean
Dr. Scott McLean
Thank
Dr. Kenneth Reichert
Neurosurgery
3 doctors agree
In brief: Neurofibromatosis
Nf type 1 is caused by mutation on chromosome 17, nf type 2 is due to mutation on chromosome 22.
Both nf-1 and nf-2 are autosomal dominant disorders, meaning only one copy of the mutated gene need be inherited to pass the disorder. A child of a parent with nf-1 or nf-2 will have a 50–100% chance of inheriting the disorder. Both nf-1 and nf-2 can also appear as spontaneous mutations.

In brief: Neurofibromatosis
Nf type 1 is caused by mutation on chromosome 17, nf type 2 is due to mutation on chromosome 22.
Both nf-1 and nf-2 are autosomal dominant disorders, meaning only one copy of the mutated gene need be inherited to pass the disorder. A child of a parent with nf-1 or nf-2 will have a 50–100% chance of inheriting the disorder. Both nf-1 and nf-2 can also appear as spontaneous mutations.
Dr. Kenneth Reichert
Dr. Kenneth Reichert
Thank
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