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Key Findings from Recent Birth Defects and Pediatric Genetics Branch Projects

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NF1 Gene and Neurofibromatosis 1

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)

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This page was last updated August 05, 2004


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National Center on Birth Defects and Developmental Disabilities
 

The National Center on Birth Defects and Developmental Disabilities (NCBDDD) promotes the health of babies, children, and adults, and enhances the potential for full, productive living.  Our work includes identifying the causes of birth defects and developmental disabilities, helping children to develop and reach their full potential, and promoting health and well-being among people of all ages with disabilities.