What is Neurofibromatosis type 1 (or von Recklinghausen disease)?
NF1 is a common genetic disorder that affects approximately 1 in 3,000 people that is sometimes inherited in families. About half of those affected with NF1 will have other affected family members. NF1 follows a clear autosomal dominant inheritance pattern, meaning that if a parent is affected there is a 50% chance for each child of being affected with NF1. Often with autosomal dominant conditions, you will see the disease in every generation of a family. However, the remaining half of those affected with NF1 will be the only members in their family and will have no other affected family members. This is a result of spontaneous gene mutation that occurred at the moment of conception for reasons that are not entirely clear. The gene for NF1 has been identified and is located on the long arm of chromosome 17; specifically 17q11.2.
