What type of mutation is NF2?

The NF2 gene mutations that cause neurofibromatosis type 2 are classified as germline, which means they are present in all of the body’s cells. Most NF2 gene mutations result in an abnormally shortened version of the merlin protein. This short protein cannot perform its normal tumor suppressor function in cells.

What does NF2 look like?

They may have café-au-lait spots, which are light brown pigmentation, the color of “coffee with milk”. This feature is similar to those individuals with Neurofibromatosis Type 1, but people with NF2 usually have fewer café-au-lait spots than people with NF1.

How rare is NF2?

NF2 is a rare disorder that affects males and females in equal numbers. All races and ethnic groups are equally affected by this disorder. The estimated incidence of NF2 is 1 in 33,000 people worldwide. The symptoms of this disease typically become apparent during puberty or early adulthood.

Are you born with NF2?

Neurofibromatosis type 2 is considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one altered copy of the NF2 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent .

When do NF2 symptoms start?

NF2 Symptoms Although the abnormal changes in the NF2 gene may be present since birth, the symptoms of NF2 are most common in people in their late teens and early 20s. People with a mild form of NF2 might not notice any symptoms until age 40 or later.

How do I know if I have NF2?

Symptoms of neurofibromatosis type 2 hearing loss that gradually gets worse over time. hearing ringing or buzzing in the ears (tinnitus) balance problems – particularly when moving in the dark or walking on uneven ground.

Is NF2 life threatening?

NF1 causes tumors to form in various tissues and organs of the body. This causes skin problems and bone deformities. NF2, on the other hand, causes tumors to develop on the brain and spinal nerves. Although most tumors caused by NF are not cancerous, they can still be dangerous and impair your quality of life.

Can you have neurofibromatosis and not know?

What Are the Signs & Symptoms of Neurofibromatosis Type 1? Most newborns with neurofibromatosis type 1 have no symptoms, but some have curved lower leg bones. By their first birthday, most children with NF1 have several skin spots, called café-au-lait (“coffee with milk”) spots because of their color.

What age is NF2 diagnosis?

The average age of symptom onset in patients with NF2 is about 20 years, while the average age of diagnosis is at about age 28.

Is there a test for NF2?

NF2 Diagnosis There are additional factors that can lead to the diagnosis of NF2. Your physician might recommend a physical exam, imaging studies and an audiogram to assess hearing function. Genetic testing could also help confirm the diagnosis of NF2.