What gene is mutated in NF2?

NF2 is caused by a mutation in the NF2 gene. The NF2 gene regulates (encodes for) the production of a protein known as merlin/schwannomin that plays a role in suppressing the development of certain tumors (tumor suppressor).

What does the NF2 gene do?

The NF2 gene provides instructions for the production of a protein called merlin, also known as schwannomin. This protein is made in the nervous system, particularly in specialized cells called Schwann cells that wrap around and insulate nerves.

What chromosome is NF2 on?

Multiple meningiomas are rare, and only 13 cases have been subjected to molecular genetic analysis to detect mutations of the tumor-suppressor gene neurofibromatosis type 2 (NF2) located on chromosome 22.

What is the life expectancy of someone with NF2?

Tumours that develop inside the brain and spinal cord can place a strain on the body and shorten life expectancy. The average life expectancy for someone with NF2 is 65 years of age.

Is NF2 worse than NF1?

NF2 is more rare than NF1, which affects 1 in every 3,500 births. Symptoms of NF2 are typically detected between the ages of 18 and 24 years, while NF1 is diagnosed in infancy or early childhood.

Is NF2 an autoimmune disease?

Background: Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder in which coexistence with autoimmune thyroiditis and thyroid gland tumours has been reported previously.

What chromosome is affected by neurofibromatosis type 2?

Neurofibromatosis type 2 (NF2) is a genetic disorder that involves changes in the NF2 gene. This particular gene helps in the production of merlin (also called schwannomin), a protein that stops tumors from forming. The gene is located on chromosome 22.

Is Neurofibromatosis an autoimmune disorder?

How serious is NF2?

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 people with NF2 have children?

People with mosaic NF2 have lower than the usual 50% risk of having a child with NF2. However, if their child does have NF2, it will be the more common type and not mosaic NF2.

At what age is neurofibromatosis usually diagnosed?

Neurofibromatosis 1 (NF1) is usually diagnosed during childhood. Signs are often noticeable at birth or shortly afterward and almost always by age 10. Signs and symptoms are often mild to moderate, but can vary in severity.

What happens if Neurofibromatosis is left untreated?

These tumors originate from Schwann cells, which protect your nerve cells and neurotransmitters. Spinal cord schwannomas are common in those with NF2. If left untreated, they can cause paralysis.

Is the ring chromosome 22 a result of NF2?

Individuals who are born with Ring Chromosome 22; may also develop NF2, as a result of damage to the 22nd chromosome. Ring 22 is not a result of NF2; it is the result of a poor formation of the entire twenty-second Chromosome that has many issues but can result in NF2 as well as all the other issues associated with it.

Where are schwannomatosis and NF2 genes located?

Schwannomatosis: is caused by a mutation in the SMARCB1 gene (SWI/SNF) or the LZTR1 gene. NF2 and Schwannomatosis: are both located in genes on chromosome 22 and are a lot closer in the traits expressed, but are associated with different genes along chromosome 22.

What happens to the NF2 gene in neurofibromatosis type 2?

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 causes schwannomatosis on chromosome 22q12.2?

Chromosome 22q12.2 Schwannomatosis: is caused by a mutation in the SMARCB1 gene (SWI/SNF) or the LZTR1 gene. NF2 and Schwannomatosis: are both located in genes on chromosome 22 and are a lot closer in the traits expressed, but are associated with different genes along chromosome 22.