Genetics

  1. NF2 is caused by mutations in the NF2 gene that regulates the production of the merlin/schwannomin
    protein which functions as a tumour suppressor.
  2. Merlin/schwannomin is related to a class of proteins (ezrin-radixin-moesin proteins) that serve to link the
    internal, supportive system within a cell (cytoskeleton) to proteins in cell membranes.
  3. Many different mutations in the NF2 gene have been identified in individuals with the condition, and may
    contribute to the wide variability of symptoms and findings in affected individuals.
  4. The condition follows a pattern of autosomal dominant inheritance.
  5. Approximately 50% of NF2 cases are inherited and about 50% are due to new mutations in the NF2 gene.
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Prevalence

  1. NF2 has an estimated birth frequency of 1 in 33,000 to 40,000.
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Investigations

  1. Genetic testing is rarely required for diagnosis.
  2. The main utility for genetic testing of the NF2 gene is to enable predictive testing and to facilitate prenatal
    testing where this is requested.
  3. Following genetic counselling, genetic testing is first done on a family member with NF2 and germ-line
    mutations can be detected in about 60% of those affected. This can take some months. (See Contacts,
    support and testing    ).
  4. Once the family mutation has been identified, presymptomatic testing is then available to blood relatives
    and results are available in a much shorter time frame.
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