CDC scientists reviewed population-based epidemiologic information on the NF1 gene and neurofibromatosis 1.

• Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is caused by mutations of the NF1 gene, which is located at chromosome 17q11.2.
    

• A wide variety of NF1 mutations have been found in patients with NF1. No frequently recurring mutation has been identified.
    

• Diagnosis of NF1 is based on established clinical criteria.
    

• Average life expectancy of patients with NF1 is probably reduced by at least 10 to 15 years, with malignancy as the most common cause of death.
    

• Substantial variability in expression of NF1 features occurs, even in affected members of a single family.
    

• Laboratory testing for NF1 mutations is difficult. A protein truncation test is commercially available, but its sensitivity, specificity, and predictive value have not been established.
    

• The prevalence of clinically diagnosed NF1 ranges from 1/2,000 to 1/5,000 in most population-based studies.

Results published in: American Journal of  Epidemiology 2000;151:33-40. (Abstract, Full Text)

Date: June 17, 2005
Content source: National Center on Birth Defects and Developmental Disabilities