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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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