neurofibromatosis type 2

neurofibromatosis type 2 is a disorder which is growths of noncancerous tumors in the nervous system. The most common tumors associated with this are called vestibular schwannomas or acoustic neuromas. These growths develop on the nerve that carries information from the inner ear to the brain (auditory nerve). Tumors found along other nerves can also be found. Signs and symptoms usually appear in a person’s twenties but can begin at any age. Most common symptoms are hearing loss, ringing in the ears, and problems with balance. If tumors develop along other nerves, you can experience tumor growths which can change vision, numbness or weakness in the arms or legs, and fluid buildup in the brain. Symptoms vary on the location of the tumor.

Estimated 1 in 33,000 with this worldwide.

Mutations in the NF2 gene cause this disorder. The NF2 gene provides instructions for a making a protein called merlin (schwannmin). It is a protein produced in the nervous system. Merlin asks as a tumor suppressor, it keeps cells from growing and dividing too rapidly. Mutations in the NF2 gene lead to the production of a nonfunctional version of the merlin protein with allows cells to multiply too frequently and form tumors.

This disorder has an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the gene in each cell. In about half of cases, the altered gene is inherited from an affected parent. The remaining cases result from new mutations in the NF2 gene and occur in people with no history of the disorder in their family.

To have this, two copies of the NF2 gene must be altered to trigger tumor formation, But most other autosomal dominant conditions only need one altered copy f the gene in each cell to cause the disorder.

https://www.ncbi.nlm.nih.gov/books/NBK132145/

https://ghr.nlm.nih.gov/condition/neurofibromatosis-type-2#diagnosis

http://www.mayoclinic.org/diseases-conditions/neurofibromatosis/home/ovc-20167893