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NF Genetics Inheritance

Last Updated: 03/28/17

Neurofibromatosis (NF): NF1, NF2 and Schwannomatosis, are a genetic Autosomal Dominant conditions, which means each child a parent with NF1, NF2 or Schwannomatosis male or female has a 50% chance to born with the form of NF their parent has.

A Sporadic Mutation, which is the development of a condition neither parent had, is common development of NF. First generation NF can be a mild mutation in comparison to future generations, depending when in prenatal development that damaged cells from NF started to develop in the cells of a unborn child. NF can occur when sperm meets egg even if neither parent had NF, but if the genetic damage occurs after that, it would be a segmented mutation, also known as Mosaic or DeNuvo mutation. Mosaic NF can be less harmful to a person than someone who is born with damaged cells in their whole body, as their children who would be at risk would have.

Autosomal Dominance Inheritance Cell Development

A child born of an individual with NF1 or NF2 is at a risk of a more harmful case of NF than their parent. This is different for a yet to be determined reason, for people with Schwannomatosis, where they can be born with Schwannomatosis and not show any symptoms.

Development of NF; NF1, NF2 and Schwannomatosis are random mutations on different Chromosomes depending on the form of NF:

  • The NF1 gene, improper function of the Ras Pathway, is on Chromosome 17.q11.2.

  • The NF2 gene, the NF2 protein, also called MERLIN, is found on Chromosome 22q12.2.

  • The Schwannomatosis gene, which develops from damage to either the INI1 protein (also called SMARCB1) or the LZTR1 protein, is found on Chromosome 22q12.21.



Reference Sources

  1. Ruttledge, M. H., & Rouleau, G. A. (2005). Role of the neurofibromatosis type 2 gene in the development of tumors of the nervous system. Neurosurgical focus, 19(5), 1-5. http://thejns.org/doi/abs/10.3171/foc.2005.19.5.7
  2. Zirn, B., et al. "Ring chromosome 22 and neurofibromatosis type II: proof of two-hit model for the loss of the NF2 gene in the development of meningioma." Clinical genetics 81.1 (2012): 82-87. http://onlinelibrary.wiley.com/doi/10.1111/j.1399-0004.2010.01598.x/full
  3. Chen, H., Zhang, X., Zhang, Z., Yang, T., Wang, Z., & Wu, H. (2014). The role of NF2 gene mutations and pathogenesis-related proteins in sporadic vestibular schwannomas in young individuals. Molecular and cellular biochemistry, 1-8. http://link.springer.com/article/10.1007/s11010-014-2011-9