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CDC scientists reviewed population-based epidemiologic
information on the NF1 gene and neurofibromatosis 1.
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Neurofibromatosis 1 (NF1), also known as von
Recklinghausen disease, is caused by mutations of the NF1 gene,
which is located at chromosome 17q11.2.
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A wide variety of NF1
mutations have been found in patients with NF1. No frequently recurring
mutation has been identified.
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Diagnosis of NF1 is based on established clinical
criteria.
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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.
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Substantial variability in expression of NF1
features occurs, even in affected members of a single family.
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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.
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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
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