New Research

Several years ago, research teams located the exact position of the NF1 gene on chromosome 17. 

The product of the NF1 gene is a large and complex protein called neurofibromin, which is 

primarily active in nervous cells as a regulator of cell division.  Intensive efforts have led to the 

identification of the NF2 gene on chromosome 22.  

The NF2 gene product is a tumor-suppressor protein called merlin.  Ongoing research continues to 

discover additional genes that appear to play a role in NF-related tumor suppression or growth.  

Other research is aimed at understanding how the genetic mutations that cause the benign tumors of 

NF1 also cause nerve cells and nerve networks to form abnormally during fetal development, which 

later result in the learning disabilities and cognitive deficits of children with the disorder. 

Additional research is aimed at understanding the natural history of tumors in NF2 and 

determining possible factors that may regular their growth patterns.  The Interinstitute Medical 

Genetics Research Program at the NIH Clinical Center conducts NF2 family history research. 

Using specimens from some of the families, scientists have isolated and sequenced the NF2 

gene and have described two different patterns of clinical features in NF2 patients. 

Investigators are continuing to study these patterns to see if they correspond to specific types 

of gene mutations. 

McClatchey AI (2007) Neurofibromatosis. Annu Rev Pathol 2: 191–216. [PubMed]

Courtois-Cox S, Genther Williams SM, Reczek EE, Johnson BW, McGillicuddy LT, et al. (2006) A negative feedback signaling network underlies oncogene-induced senescence. Cancer Cell 10: 459–472.[PMC free article] [PubMed]