What is NF2 gene?
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.
Where is NF2 gene located?
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.
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. Read more about treating neurofibromatosis type 2.
Is NF2 a tumor suppressor gene?
Merlin is the protein encoded by the tumor suppressor gene, NF2, located on chromosome 22q12. Deletion or loss-of-function mutation of NF2 causes Neurofibromatosis type 2 (NF2), a nervous system tumor-forming disease (1–3).
When do NF2 symptoms start?
The signs and symptoms of neurofibromatosis type 2 usually appear during adolescence or in a person’s early twenties, although they can begin at any age. The most frequent early symptoms of vestibular schwannomas are hearing loss, ringing in the ears (tinnitus), and problems with balance.
What’s the difference between NF1 and NF2?
The NF1 gene makes a protein called neurofibromin, which regulates cell division in the nervous system and functions as a kind of molecular brake to keep cells from growing out of control. The gene for NF2 is located on chromosome 22. The NF2 gene product is a tumor-suppressor protein (called merlin or schwannomin).
Is NF2 curable?
There is no cure for NF2, but treatment can manage symptoms. Balance problems can be addressed with vestibular training, physical therapy and occupational therapy. Those affected by hearing loss can learn alternative communication techniques such as sign language.
Does NF2 cause blindness?
The NF2 condition is rare; the rare condition includes tumors and rare eye problems. The eye problems are uncommon enough that twenty-percent (20%) of vision loss of individuals with NF2 with a diagnosis of ocular abnormalities.
Does neurofibromatosis worsen with age?
Neurofibromas may increase in number with age. Bone deformities. Abnormal bone development and a deficiency in bone mineral density can cause bone deformities such as a curved spine (scoliosis) or a bowed lower leg. Tumor on the optic nerve (optic glioma).
Can neurofibromatosis type 2 be cured?
Neurofibromatosis Type 2 Treatment There is no cure for NF2, but treatment can manage symptoms. Balance problems can be addressed with vestibular training, physical therapy and occupational therapy. Those affected by hearing loss can learn alternative communication techniques such as sign language.
Is NF2 always inherited?
The abnormal gene can be inherited from either parent. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy. The risk is the same for males and females. In other individuals with NF2, there is no family history of the disease.
Can NF2 be cured?
What does the NF2 gene do?
Entrez Gene Summary for NF2 Gene This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane.
Is NF2 autosomal dominant or recessive?
Neurofibromatosis type 2 (NF2) is inherited in an autosomal dominant pattern. All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Dominant means that only one altered copy of a gene is necessary to have the condition.
What are the clinical characteristics of Neurofibromatosis 2 (NF2)?
Clinical characteristics. Neurofibromatosis 2 (NF2) is characterized by bilateral vestibular schwannomas with associated symptoms of tinnitus, hearing loss, and balance dysfunction. The average age of onset is 18 to 24 years.
What is the prevalence of familial factor 2 (NF2) syndrome?
Approximately 50% of individuals with NF2 have an affected parent, and 50% have NF2 as the result of a de novo pathogenic variant. However, 25% to 30% of simplex cases (i.e., single occurrence in a family) are mosaic for an NF2 pathogenic variant.