A young adult diagnosed with neurofibromatosis type 2 asks what causes the disorder. What should you say in response?

Question

Quizplus · Accepted Answer

Type 2 NF is characterized by autosomal dominant inheritance and is caused by mutation in the NF-2 gene on chromosome 22 that encodes for merlin. Because merlin is also a tumor suppressor gene, the NF-related mutation disrupts this activity and leads to the formation of schwannomas. The gene that causes NF type2 causes tumor development in late adolescence and early adulthood. The disorder is caused by a mutation in the NF-2 gene on chromosome 22. NF type 1 is caused by a mutation in the NF-1 gene located on chromosome 17 that encodes for neurofibromin. The normal NF-1 gene is a tumor-suppressor gene that probably suppresses activity of the ras protein following stimulation by nerve growth factor or other agents. Loss of tumor suppression due to NF-1 mutation presumably permits uncontrolled ras activation, which leads to the formation of neurofibromas.

A Young Adult Diagnosed with Neurofibromatosis Type 2 Asks What