Neurofibromatosis type 2 (NF2) is a rare genetic condition that occurs in about 1 in every 25,000 persons. It is one of two types of neurofibromatosis, the other being neurofibromatosis type 1. NF2 is characterized by the growth of tumors, called schwannomas, on the nerves responsible for hearing and balance. These tumors usually occur bilaterally and can also affect other central nervous system structures.

The genetic alterations that cause NF2 are located on a gene known as NF2 (neurofibromin 2). This gene codes for a protein called merlin, which normally helps regulate cell growth and division. In individuals with NF2, the NF2 gene is altered, leading to uncontrolled tumor growth. NF2 is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one altered copy of the NF2 gene to develop the condition.

Research on NF2 and its genetic causes has provided valuable information about other diseases and genes associated with tumor growth. Studying NF2 has helped scientists learn more about the central role of genes in the development of tumors and the inheritance patterns of rare genetic conditions.

There are several resources available for further information on NF2, including scientific articles and research studies. The Online Mendelian Inheritance in Man (OMIM) catalog provides information on the genetic causes and clinical features of NF2, as well as references to scientific articles and other resources. PubMed is another valuable resource for finding articles about NF2 and related topics.

Clinical support and advocacy organizations, such as the NF2 Advocacy Center, offer additional resources and support for patients and their families. These organizations provide information on diagnosis, testing, treatment options, and other resources for individuals with NF2.

Frequency

Neurofibromatosis type 2 (NF2) is a rare genetic condition that occurs in about 1 in 25,000 persons. It is the most common central nervous system tumor predisposition syndrome caused by an altered gene. The frequency of NF2 may vary slightly between populations, but it is generally considered a rare condition.

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Information on the frequency of NF2 can be found in scientific articles and resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed, and the NF2 Genetic Testing Resource. These sources provide additional information about the inheritance and causes of NF2, as well as genetic testing and clinical studies associated with the condition.

For more information on the frequency of NF2, patients and their families can also turn to support and advocacy organizations like the NF2 Information Center and the NF2 Association. These organizations can provide resources and support for those affected by NF2, as well as information on clinical trials and research studies related to the condition.

References:

• Evans DGR, Huson SM, Donnai D, Neary W, Blair V, Teare D, Newton V, Strachan T, Ramsden R, Harris R. et al. A clinical study of type 2 neurofibromatosis. Q J Med. 1992;84(304):603-618.
• Neurofibromatosis type 2. Genetics Home Reference. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/condition/neurofibromatosis-type-2
• Sainz J, Huynh DP, Figueroa K, Ragge NK, Baser ME, Pulst SM. Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas. Hum Mol Genet. 1994;3(2):885-891.

Causes

Neurofibromatosis type 2 (NF2) is a rare genetic condition. It is caused by alterations in a gene called NF2, which is also known by its other names like “merlin” and “moesin ezrin radixin like protein” (ERM). NF2 follows an autosomal dominant pattern of inheritance, which means that the condition can be passed down from one affected parent to their children with a 50% chance.

The NF2 gene is located on chromosome 22 and encodes a protein called merlin. This protein plays a role in regulating cell growth and division. Alterations in the NF2 gene result in the production of an altered or nonfunctional merlin protein, leading to the development of tumors in the nervous system.

The exact frequency of NF2 is not known, but it is considered one of the rarest genetic conditions, affecting approximately 1 in 25,000 individuals. The incidence may be higher, as some individuals with milder symptoms may go undiagnosed or misdiagnosed.

Most cases of NF2 are not inherited and occur sporadically due to de novo mutations, meaning the alterations in the NF2 gene happen for the first time in the affected person, and there is no family history of the condition. In these cases, the alteration is not present in the egg or sperm, but it occurs just after fertilization.

Additional genetic factors may influence the severity and clinical presentation of NF2. Scientists have identified other genes that may be associated with NF2 or modify its effects, but further research is necessary to fully understand these relationships.

If a person is suspected of having NF2 based on their symptoms and clinical findings, genetic testing can be done to confirm the diagnosis. Molecular genetic testing for NF2 is available commercially and can detect alterations in the NF2 gene. These tests are usually ordered by a healthcare professional with expertise in neurofibromatoses.

For more information about the causes of NF2 and other neurofibromatosis disorders, resources and support can be found from organizations like the Neurofibromatosis Network, the Children’s Tumor Foundation, and the Genetic and Rare Diseases Information Center. These organizations provide information, support, advocacy, and resources for patients and families affected by NF2 and other related diseases.

References:

1. Genetics Home Reference. (n.d.). Neurofibromatosis type 2. Retrieved from https://medlineplus.gov/genetics/condition/neurofibromatosis-type-2/
2. National Organization for Rare Disorders. (2021). Neurofibromatosis Type 2. Retrieved from https://rarediseases.org/rare-diseases/neurofibromatosis-type-2/
3. Neurofibromatosis Network. (2021). Neurofibromatosis type 2 (NF2). Retrieved from https://www.nfnetwork.org/nf2

Learn more about the gene associated with Neurofibromatosis type 2

Neurofibromatosis type 2 (NF2) is a genetic condition that is caused by alterations in a specific gene. The gene associated with NF2 is called the NF2 gene, which is located on the long arm of chromosome 22 (22q12.2). This gene provides instructions for making a protein called merlin, which is involved in regulating cell growth and division.

Alterations in the NF2 gene can lead to the production of an altered or nonfunctional merlin protein. This can result in the development of tumors in the central nervous system, including the brain and spinal cord.

NF2 is a rare condition, with a frequency of approximately 1 in 25,000 births. It is often inherited in an autosomal dominant pattern, which means that an affected person has a 50% chance of passing the altered gene on to each of their children. However, NF2 can also occur sporadically, without a family history of the condition.

Studies have identified over 400 different variants of the NF2 gene associated with NF2. These variants can cause varying degrees of tumor growth and severity of symptoms in affected individuals.

For more information about the NF2 gene and associated conditions, there are several resources available. The NF2 Genetic Testing and Clinical Center provides information about the gene and offers genetic testing for individuals suspected of having NF2. The NF2 Advocacy Group also offers support and resources for individuals and families affected by NF2.

Additional information about the NF2 gene and associated conditions can be found in scientific articles and clinical resources. PubMed and OMIM are two databases that provide access to a wealth of scientific articles and genetic information. ClinicalTrials.gov is another resource where ongoing research and clinical trials related to NF2 and other genetic diseases can be found.

By learning more about the gene associated with NF2, we can better understand the underlying causes of this condition and work towards improved diagnosis, treatment, and support for individuals affected by NF2.

Inheritance

Neurofibromatosis type 2 (NF2) is a genetic condition that is inherited in an autosomal dominant pattern, which means that a person with NF2 has a 50% chance of passing the condition on to each of their children.

Studies have shown that NF2 is caused by mutations in the NF2 gene, which is responsible for producing a protein called merlin. This protein helps regulate cell growth and prevents tumors from forming. In most cases, the NF2 gene mutation is inherited from a parent who also has NF2. However, in about half of all cases, the mutation occurs spontaneously with no family history of the condition.

Additional mutations in the NF2 gene can also cause a variant of NF2 called schwannomatosis. This condition is characterized by the development of schwannomas, which are tumors that arise from cells that normally produce the protective covering of nerve fibers. Schwannomatosis can occur in individuals with a mutation in the NF2 gene and no other associated features of NF2.

There are rare cases in which NF2 is not caused by mutations in the NF2 gene. These cases are referred to as “NF2-like” or “NF2 variant” and the altered gene has not yet been identified. Genetic testing is available to confirm a diagnosis of NF2 and can also help identify these rare cases.

For more information about NF2, genetic testing, and other related topics, the following resources may be helpful:

• The National Institutes of Health’s Genetic and Rare Diseases Information Center (GARD) provides information on the frequency, clinical features, and inheritance of NF2, as well as links to other resources and articles on the condition.
• The Online Mendelian Inheritance in Man (OMIM) database includes in-depth information on the NF2 gene, associated diseases, and scientific references.
• PubMed is a searchable database of scientific articles on NF2 and related topics.
• ClinicalTrials.gov lists ongoing clinical trials for NF2 and other genetic diseases.
• The Children’s Tumor Foundation and the Neurofibromatosis Network are advocacy and support organizations for individuals and families affected by NF2 and other neurofibromatosis conditions.

By learning more about the genetic basis of NF2 and participating in research studies, patients and their families can contribute to the development of new treatments and resources for this rare condition.

Other Names for This Condition

Neurofibromatosis type 2 (NF2), also known as MISME syndrome, NF-2, acoustic neurofibromatosis, or central neurofibromatosis, is a rare genetic condition caused by alterations in the NF2 gene. It is a variant of neurofibromatosis type 1, with the main difference being the central nervous system manifestations in NF2.

The NF2 gene, which is located on chromosome 22, encodes a protein called merlin. Merlin is a tumor suppressor protein that plays a role in cell adhesion and growth control. Mutations in the NF2 gene lead to a deficiency or loss of merlin, allowing tumors to occur in the central nervous system.

Other names for NF2 include:

• Neurofibromatosis type 2
• MISME syndrome
• NF-2
• Acoustic neurofibromatosis
• Central neurofibromatosis

These alternate names highlight different aspects of the condition, such as the frequency of acoustic neuromas, the central nervous system involvement, or the similarity to neurofibromatosis type 1.

To learn more about NF2 and its associated genes, you can refer to resources such as OMIM (Online Mendelian Inheritance in Man), the NF2 section in the Genetic Testing Registry, or scientific articles available on PubMed. Supporting organizations and advocacy groups, such as the NF2 Research Foundation and the Children’s Tumor Foundation, also provide valuable information and support for patients and their families.

ClinicalTrials.gov is a useful resource to find ongoing clinical trials related to NF2. These trials can provide more information about the disease and potential treatment options.

In conclusion, neurofibromatosis type 2, also known as MISME syndrome, NF-2, acoustic neurofibromatosis, or central neurofibromatosis, is a rare genetic condition caused by alterations in the NF2 gene. It is characterized by the development of tumors in the central nervous system. To learn more about this condition and find support resources, you can refer to the names and references mentioned above.

Additional Information Resources

If you would like to learn more about Neurofibromatosis type 2 (NF2) and related conditions, there are several resources available to you. These resources can provide you with further information on the condition, its symptoms, and available treatment options.

1. Online Resources:

• ClinicalTrials.gov: This website provides information on ongoing clinical studies and trials related to NF2.
• OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides detailed information on genes and genetic conditions, including NF2.
• PubMed: PubMed is a database that contains articles and research studies on various medical topics, including NF2. You can find scientific articles and research studies related to NF2 on this platform.

2. Patient Support:

• Neurofibromatosis Type 2 NF2 Center: This center, located at Washington University, specializes in the diagnosis, treatment, and support of individuals with NF2. They provide comprehensive care and resources for patients and their families.
• NF Network: The NF Network is a non-profit organization that aims to provide support, advocacy, and resources for individuals affected by NF2 and other related neurofibromatosis diseases.

3. Genetic Testing:

• National Human Genome Research Institute: The National Human Genome Research Institute provides information on genetic testing for various genetic conditions, including NF2. You can learn more about the testing process and find resources for genetic testing centers.

4. Books and Publications:

• NCI Booklet: The National Cancer Institute provides a booklet titled “Childhood Cancers: A Guide for Patients, Their Families and Friends” which includes information on NF2 and other childhood cancers.
• Online Bookstores: Online bookstores like Amazon offer books and publications on NF2 and related conditions. You can search for specific titles or browse categories related to genetic conditions and tumors.

5. Organizations and Associations:

• Neurofibromatosis Foundation: The Neurofibromatosis Foundation is a non-profit organization dedicated to providing support, advocacy, and resources for individuals and families affected by neurofibromatosis, including NF2.
• NF2 BioSolutions: NF2 BioSolutions is a non-profit organization that aims to accelerate research and find a cure for NF2 by funding innovative scientific projects and collaborations.

By exploring these resources, you can gather more information on NF2, its associated conditions, genetic testing options, and support services available for patients and their families.

Genetic Testing Information

Neurofibromatosis type 2 (NF2) is a rare genetic condition that causes the development of tumors on the nerves. It is caused by a mutation in the NF2 gene, which is involved in regulating cell growth. NF2 is inherited in an autosomal dominant manner, meaning that a person only needs to inherit one altered copy of the gene from either parent to develop the condition.

Genetic testing can be used to confirm a diagnosis of NF2 and to identify the specific mutation in the NF2 gene. Testing can also provide information about the likelihood of developing symptoms or passing the condition on to future generations. Genetic testing may be recommended for individuals who have a family history of NF2 or who are showing symptoms of the condition.

There are several resources available for genetic testing information on NF2. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic disorders, including NF2. The NF2 Genetic Counseling Center provides support and resources for individuals and families affected by NF2. Additionally, scientific articles and studies can be found on PubMed, a database of scientific literature.

It is important to note that genetic testing results are not always straightforward. In some cases, a specific mutation may not be identified, or a variant of uncertain significance may be found. In such cases, additional research and clinical evaluation may be necessary to confirm a diagnosis.

Genetic testing can provide valuable information for individuals with NF2 and their families. It can help in understanding the cause of the condition, assessing the risk of developing tumors, and making informed decisions about treatment options. It is recommended to consult with a healthcare professional or a genetic counselor to discuss the benefits, limitations, and potential implications of genetic testing for NF2.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable, up-to-date information on genetic and rare diseases. GARD is a central resource for persons with rare diseases or genetic conditions, their families, and advocacy groups. GARD offers information about the causes, frequency, inheritance, and clinical features of rare diseases, as well as available genetic testing and research studies.

For the condition Neurofibromatosis type 2 (NF2), GARD provides additional scientific resources and support. NF2, also known as “bilateral acoustic neurofibromatosis” and “central neurofibromatosis,” is a rare genetic disorder characterized by the development of benign tumors in the nervous system. NF2 is associated with mutations in the NF2 gene, which causes the production of an altered protein that leads to tumor growth.

GARD provides information about the frequency of NF2, diagnostic testing options, and available treatments. The center offers a clinical trials database, clinical practice guidelines, and links to resources for further reading, such as articles and references from PubMed and OMIM. GARD also supports advocacy groups and provides information on how to get involved in research studies and clinical trials.

For more information about Neurofibromatosis type 2 and other rare genetic diseases, visit the Genetic and Rare Diseases Information Center website.

Patient Support and Advocacy Resources

Neurofibromatosis type 2 (NF2) is a rare genetic condition caused by alterations in the NF2 gene. It is inherited in an autosomal dominant manner, meaning that affected persons have a 50% chance of passing the altered gene on to their children.

For more information about the genetic inheritance and clinical features of NF2, you can refer to the Online Mendelian Inheritance in Man (OMIM) catalog. This comprehensive database provides detailed information about various genetic conditions and associated genes.

If you are interested in genetic testing for NF2 or learning more about the condition, there are several resources available to you. Support groups, such as the Neurofibromatosis Network, offer information and support to individuals and families affected by NF2. They can provide you with resources and connect you with others who are going through similar experiences.

In addition, scientific articles and studies on NF2 can be found on PubMed, a database of biomedical literature. These articles can provide insights into the latest research and clinical findings related to NF2.

For those seeking additional support and advocacy resources, the Neurofibromatosis Network and the Children’s Tumor Foundation offer a variety of services. These organizations work to raise awareness about NF2, fund research, and provide support to patients and their families.

Neurofibromatosis Network	https://www.nfnetwork.org/
Children’s Tumor Foundation	https://www.ctf.org/

There are also clinical trials and research studies available for individuals interested in participating in research for NF2. ClinicalTrials.gov is a database that provides information about ongoing clinical trials and research studies. By participating in these studies, individuals can contribute to the advancement of knowledge about NF2 and potentially benefit from new treatments or interventions.

In summary, if you or someone you know has been diagnosed with NF2, it is important to seek out patient support and advocacy resources. These resources can provide you with information, support, and connections to others with NF2. Additionally, staying informed about ongoing research and clinical trials can open up opportunities for participation and access to new treatments.

Research Studies from ClinicalTrials.gov

Neurofibromatosis type 2 (NF2) is a rare genetic condition that is caused by alterations in the NF2 gene. It is inherited in an autosomal dominant manner, meaning that an affected person has a 50% chance of passing on the condition to their children. NF2 is characterized by the development of tumors called vestibular schwannomas, which grow on the nerves responsible for balance and hearing.

Research studies on NF2 are conducted to learn more about the causes and inheritance of the condition and to develop better clinical management strategies. ClinicalTrials.gov is a central resource for information on ongoing clinical trials related to NF2 and other rare genetic diseases.

Some of the research studies currently listed on ClinicalTrials.gov include:

• A study investigating the genetic and clinical characteristics of NF2 patients
• A clinical trial evaluating the efficacy of a new treatment for NF2-related tumors
• An advocacy study to assess the impact of NF2 on patients and their families

In addition to these studies, there are also scientific articles available on PubMed that provide additional information on NF2 and its associated genes and tumor variants. These articles can be a valuable resource for researchers and clinicians interested in learning more about NF2.

For patients and their families, there are support resources available from organizations such as the Neurofibromatosis Network and the Genetic and Rare Diseases Information Center. These organizations provide information, support, and advocacy for individuals affected by NF2 and other rare genetic conditions.

In conclusion, research studies from ClinicalTrials.gov and other scientific resources are essential for advancing our understanding of NF2 and developing improved diagnostic and treatment approaches. They provide valuable information for both researchers and patients, helping to improve the lives of individuals affected by this rare genetic condition.

Catalog of Genes and Diseases from OMIM

Neurofibromatosis type 2 (NF2) is a rare genetic condition. It is also called MISME syndrome, central neurofibromatosis, or bilateral acoustic neurofibromatosis. NF2 occurs in about 1 in every 25,000 persons. It is caused by alterations in the NF2 gene.

The NF2 gene is responsible for producing a protein called merlin, which acts as a tumor suppressor. In persons with NF2, this gene is altered, leading to the development of tumors in the central nervous system, particularly in the brain and spinal cord. These tumors are called schwannomas, and they primarily affect the nerves responsible for hearing and balance.

NF2 is inherited in an autosomal dominant manner, meaning that a person with a variant in the NF2 gene has a 50% chance of passing it on to their children. However, some cases may occur sporadically, without a known family history of the condition.

Clinical features of NF2 include the gradual loss of hearing, tinnitus, problems with balance, and the development of other tumors, such as meningiomas and ependymomas.

The diagnosis of NF2 is typically made based on clinical findings and genetic testing. The identification of a variant in the NF2 gene confirms the diagnosis. However, in some cases, the diagnosis may be made based on clinical features alone.

Currently, there is no cure for NF2, but there are several treatment options available to manage the symptoms and improve the quality of life for patients. These include surgical removal of tumors, radiation therapy, and targeted drug therapy.

For additional information about NF2, its associated genes, and other related diseases, you can visit the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM is a comprehensive scientific resource that provides information about genes and genetic conditions. It includes references to scientific articles, clinical trials, and other resources for advocacy and support. To learn more, you can visit the OMIM website at www.omim.org.

References:

1. Evans, D. G., & Huson, S. M. (2010). Genotype–phenotype correlations in neurofibromatosis type 2. Clinical genetics, 77(4), 302-311.
2. Neurofibromatosis type 2. (n.d.). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/neurofibromatosis-type-2
3. Neurofibromatosis type 2. (n.d.). Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/6683/neurofibromatosis-type-2
4. Neurofibromatosis type 2 (NF2). (n.d.). ClinicalTrials.gov. Retrieved from https://clinicaltrials.gov/ct2/results?cond=Neurofibromatosis+2&term&cntry&state&city&dist

Scientific Articles on PubMed

Neurofibromatosis type 2 (NF2) is a rare genetic condition that is caused by mutations in the NF2 gene. This gene is listed in the Online Mendelian Inheritance in Man (OMIM) database, which provides information on genetic conditions and their associated genes.

Individuals with NF2 develop tumors called neurofibromas, which can occur in the brain, spinal cord, and other parts of the nervous system. NF2 is one of the most frequent genetic causes of tumors in the central nervous system.

Testing for NF2 involves analyzing the NF2 gene for mutations. Clinical testing can provide information about the specific gene variant(s) associated with the condition.

There are resources available for individuals with NF2 and their families, such as advocacy groups and research centers. PubMed, a scientific articles database, provides information about studies and articles related to NF2 and other clinical conditions.

Some scientific articles related to NF2 and the NF2 gene:

• “Clinical and genetic characteristics in a large cohort of Chinese patients with neurofibromatosis type 2” – This study provides insights into the clinical features and genetic characteristics of NF2 in Chinese patients.
• “NF2 mutation screening by next-generation sequencing in a cohort of patients with multiple tumors” – This article discusses the use of next-generation sequencing to screen for NF2 mutations in patients with multiple tumor types.
• “Genotype-phenotype correlations in neurofibromatosis type 2” – This study examines the relationship between specific NF2 gene mutations and clinical manifestations of the disease.

For additional information on NF2, genetic testing, and clinical trials, you can visit the following resources:

• Neurofibromatosis Network – a patient support and advocacy organization for individuals with NF2.
• ClinicalTrials.gov – a database of ongoing clinical trials related to various medical conditions, including NF2.
• NF2 Patient Support Center – a resource center providing information, support, and resources for individuals with NF2.
• OMIM – the Online Mendelian Inheritance in Man database, which provides comprehensive information on genetic conditions and associated genes.

In conclusion, NF2 is a rare genetic condition caused by mutations in the NF2 gene. Scientific articles on PubMed provide valuable information about the genetics, clinical manifestations, and management of NF2.

References

The following references provide additional information on Neurofibromatosis type 2:

• Denayer E, Legius E. What to expect of spectrum when having a NF2-like disease?. Genes (Basel). 2021;12(6):916. doi:10.3390/genes12060916.
• Evans DGR, Suckling J, Smith MJ, et al. Magnetic resonance imaging surveillance in clinically diagnosed neurofibromatosis type 2 patients with a proven NF2 mutation. PLoS ONE. 2014;9(3):e90732. doi:10.1371/journal.pone.0090732.
• Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ. Neurofibromatosis type 2 (NF2): A neurocutaneous disorder. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1201/. PMID: 20301596.
• Lin AE, Birch PH, Korf BR, et al. NF2 gene-related syndrome: a clinical and molecular description of 75 patients. Am J Med Genet. 2000;92(5):321-329. doi:10.1002/(sici)1096-8628(20000612)92:5<321::aid-ajmg4>3.0.co;2-e.
• Parry DM, Eldridge R, Kaiser-Kupfer MI, et al. Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. Am J Med Genet. 1994;52(4):450-461. doi:10.1002/ajmg.1320520405.