Abstract
Neurofibromatosis 1 (NF1) is one of the most common inherited neurologic diseases. NF1 is due to autosomal dominant mutations in the Nf1 gene; fifty percent of cases have de novo mutations. Mutations appear to be fully penetrant with intra- and inter-familial variability. Genetic counseling can be complicated by the possibility of mosaicism. People with NF1 often experience shame about their own condition and guilt of passing on the disorder. Genetic counseling should address the psychosocial aspects of the disease as well as the physical.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Borofsky, S., & Levy, L. M. (2013). Neurofibromatosis: Types 1 and 2. American Journal of Neuroradiology, 13(4), 1071–1077. http://dx.doi.org/10.3174/ajnr.A3534.
Boyd, K. P., Korf, B. R., & Theos, A. (2009). Neurofibromatosis type 1. Journal of the American Academy of Dermatology, 61(1), 1–14.
Ferner, R. E., Huson, S. M., Thomas, N., Moss, C., Willshaw, H., Evans, D. G., et al. (2006). Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. Journal of Medical Genetics, 44(2), 81–88.
Vranceanu, A. M., Merker, V. L., Park, E., & Plotkin, S. R. (2013). Quality of life among adult patients with neurofibromatosis 1, neurofibromatosis 2 and schwannomatosis: A systematic review of the literature. Journal of Neuro-Oncology, 114, 257–262. doi:10.1007/s11060-013-1195-2.
Uhlmann, E. J., & Plotkin, S. R. (2012). Neurofibromatoses. In S. Ahmad (Ed.), Neurodegenerative diseases (pp. 266–277). New York, NY: Spring Science Business Media.
Piotrowski, A., Xie, J., Liu, Y. F., Poplawski, A. B., Gomes, A. R., Madanecki, P., et al. (2014). Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. Nature Genetics, 46, 182.
Brems, H., Pasmant, E., Van Minkelen, R., Wimmer, K., Upadhyaya, M., Legius, E., et al. (2012). Review and update of SPRED1 mutations causing Legius syndrome. Human Mutation, 33(11), 1538–1546.
Patil, S., & Chamberlain, R. S. (2012). Neoplasms associated with germline and somatic NF1 gene mutations. The Oncologist, 17(1), 101–116.
Leppig, K. A., Kaplan, P., Viskochil, D., Weaver, M., Ortenberg, J., & Stephens, K. (1997). Familial neurofibromatosis 1 microdeletions: Cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata. American Journal of Medical Genetics, 73(2), 197–204.
Pasmant, E., Vidaud, M., Vidaud, D., & Wolkenstein, P. (2012). Neurofibromatosis type 1: From genotype to phenotype. Journal of Medical Genetics, 49(8), 483–489.
Moles, K. J., Gowans, G. C., Gedela, S., Beversdorf, D., Yu, A., Seaver, A. H., et al. (2012). NF1 microduplications: Identification of seven nonrelated individuals provides further characterization of the phenotype. Genetics in Medicine, 14(5), 508–514.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
1 Electronic Supplementary Material
Below is the link to the electronic supplementary material.
Neurofibromatosis 1 (NF1) Part 1 (MOV 373,086 kb)
Neurofibromatosis 1 (NF1) Part 2 (MOV 297,172 kb)
Rights and permissions
Copyright information
© 2015 Springer Science+Business Media New York
About this chapter
Cite this chapter
Bergner, A. (2015). Neurofibromatosis. In: Goldman, J. (eds) Genetic Counseling for Adult Neurogenetic Disease. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-7482-2_23
Download citation
DOI: https://doi.org/10.1007/978-1-4899-7482-2_23
Published:
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4899-7481-5
Online ISBN: 978-1-4899-7482-2
eBook Packages: Behavioral ScienceBehavioral Science and Psychology (R0)