Neurofibromatosis Type 2 Causes and Diagnosis

Neurofibromatosis type 2 is a genetic disorder characterized by the growth of benign tumors along nerves.

In around half of cases, the genetic mutation for this condition is inherited by a child from one of their parents. In the other half of cases, the mutation arises completely sporadically and cannot be explained by any family history of the condition.

Genes associated with neurofibromatosis type 2

The gene that becomes mutated in the case of neurofibromatosis type 2 (NF2) is a tumour suppressor gene present on the long arm of chromosome 22(22q12.2). This NF2 gene codes for a protein called merlin, which is involved in regulating nerve growth. When this gene is mutated, the merlin protein produced is incomplete or even absent meaning uncontrolled growth of the nerve tissue ensues.

In cases where the condition is inherited, only one parent needs to carry the mutated gene for their offspring to be at risk of also developing the condition. If on parent has the condition, each child is at a 50% risk of developing the illness. This pattern of inheritance is referred to as autosomal dominant. The risk of developing the condition is equal between both genders.

In sporadic cases, the mutation seems to occur in either the sperm or ovum prior to conception and it is unclear why this occurs. A person who develops a sporadic NF2 mutation can also pass the condition onto their offspring.


Diagnosis is made based on clinical features, magnetic resonance imaging, hearing tests, vision tests and genetic testing for the NF2 mutation.

Prenatal testing can also be performed to check for this mutation and the most commonly used tests include chorionic villus sampling and amniocentesis.

Further Reading

Last Updated: Dec 31, 2022

Dr. Ananya Mandal

Written by

Dr. Ananya Mandal

Dr. Ananya Mandal is a doctor by profession, lecturer by vocation and a medical writer by passion. She specialized in Clinical Pharmacology after her bachelor's (MBBS). For her, health communication is not just writing complicated reviews for professionals but making medical knowledge understandable and available to the general public as well.


Please use one of the following formats to cite this article in your essay, paper or report:

  • APA

    Mandal, Ananya. (2022, December 31). Neurofibromatosis Type 2 Causes and Diagnosis. News-Medical. Retrieved on June 22, 2024 from

  • MLA

    Mandal, Ananya. "Neurofibromatosis Type 2 Causes and Diagnosis". News-Medical. 22 June 2024. <>.

  • Chicago

    Mandal, Ananya. "Neurofibromatosis Type 2 Causes and Diagnosis". News-Medical. (accessed June 22, 2024).

  • Harvard

    Mandal, Ananya. 2022. Neurofibromatosis Type 2 Causes and Diagnosis. News-Medical, viewed 22 June 2024,


The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of News Medical.

While we only use edited and approved content for Azthena answers, it may on occasions provide incorrect responses. Please confirm any data provided with the related suppliers or authors. We do not provide medical advice, if you search for medical information you must always consult a medical professional before acting on any information provided.

Your questions, but not your email details will be shared with OpenAI and retained for 30 days in accordance with their privacy principles.

Please do not ask questions that use sensitive or confidential information.

Read the full Terms & Conditions.

You might also like...
Exploring developmental pathways and disease interactions in nervous and stomatognathic systems