Is Neurofibromatosis a polygenic disorder?

Neurofibromatosis is a single gene (autosomal dominant) genetic disease.

The most common type is Von Recklinghausen disease (Neurofibromatosis type I) which is associated with a single mutation on chromosome 17.

Neurofibromatosis type II is associated with a mutation on chromosome 22.

The fact that phenotype and genotype do not match in a lot of neurofibromatosis cases suggests a multi-factorial (or polygenic) etiology, but there is no solid data to confirm this theory.

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