NF2 gene

Overview

Gene (OMIM No.)
Function of gene/protein
  • Neurofibromin 2 (merlin)
  • Tumour suppressor protein
  • Involved in regulating cell growth and adhesion
Clinical phenotype
(OMIM phenotype no.)
  • Neurofibromatosis type 2 (NF2) (#101000)
Inheritance
  • Autosomal dominant
Ocular features
  • Juvenile posterior subcapsular cataracts
  • Epiretinal membranes
  • Hamartomas of the retina
Visual function
  • Progressive vision loss due to cataracts and retinal changes
Systemic features
  • Bilateral vestibular schwannomas
  • Meningiomas
  • Schwannomas
  • Ependymomas
  • Hearing loss
  • Balance problems
Key investigations
  • MRI: detection of schwannomas, meningiomas, ependymomas
  • Genetic testing: identification of NF2 mutations
Management
  • Regular monitoring and surgical removal of tumours
  • Management of hearing loss with hearing aids or cochlear implants
  • Cataract surgery if needed
Therapies under research
  • None currently specified

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References

  1. Baser ME, Kuramoto L, Joe H, Friedman JM, Wallace AJ, Ramsden RT, Evans DG. Genotype-phenotype correlations for cataracts in neurofibromatosis 2. Journal of medical genetics. 2003 Oct 1;40(10):758-60.

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Updated on July 8, 2024
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