from Medical topics
Published online by Cambridge University Press: 18 December 2014
Neurofibromatosis 1 (NF1) is a common autosomal dominant disease with an estimated birth incidence of 1 in 2500 and a prevalence of 1 in 4000 (Huson et al., 1991). The principal and defining clinical features are café au lait patches, skinfold freckling, cutaneous neurofibromas (benign peripheral nerve sheath tumours), iris Lisch nodules (hamartomas) and characteristic bony dysplasia (Huson et al., 1988; National Institutes of Health Consensus Development Conference, 1988) (Table 1). The majority of patients are diagnosed by the age of three years. NF1 arises as a spontaneous mutation in 50% of individuals and there is a wide variety of disease expression in patients with NF1, even within families. Neurofibromatosis 1 is clinically and genetically distinct from the rare condition neurofibromatosis 2, which is characterized by bilateral vestibular schwannomas (benign tumours of the eighth cranial nerve), schwannomas involving other cranial nerves, spinal nerve roots and peripheral nerves and by central nervous system meningiomas and gliomas (Evans et al., 1992).
The gene for NF1 has been identified on chromosome 17q11.2 by positional cloning (Viskochil et al., 1990; Wallace et al., 1990) and the protein product is neurofibromin, which has high levels of expression in the brain and acts as a tumour suppressor (Gutmann et al., 1991). Neurofibromin reduces cell proliferation by promoting the inactivation of the protooncogene p21RAS, which has a major role in mitogenic intracellular signalling pathways.
To save this book to your Kindle, first ensure no-reply@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.
Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.
Find out more about the Kindle Personal Document Service.
To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.
To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.