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NF1: Genetics

Neurofibromatosis type 1 (NF1) is a genetic condition with autosomal dominant inheritance. Parents of children with NF1 should be evaluated for any signs of NF1. About 50% of individuals with NF1 inherit the gene mutation from one of their parents and approximately 50% are sporadic, resulting from a new mutation of the NF1 gene. [Jones: 1997]
As an adult, NF1 can be diagnosed with relative certainty on a clinical basis and thus rarely requires mutation analysis. NF1 is fully penetrant with variable age-dependent onset of manifestations. All individuals, including adults, suspected of having NF1 should be evaluated by a trained clinical geneticist. DNA testing is, however, clinically available [for information on available gene testing, see [Friedman: 2002]]. Issues regarding insurance coverage for genetic testing are often complicated. Prior approval is suggested unless individuals are willing to pay the entire cost.

Resources

Information & Support

For Professionals

Genetics in Primary Care Institute (AAP)
The goal of this site is to increase collaboration in the care of children with known or suspected genetic disorders. Includes health supervision guidelines and other useful resources; a collaboration among the Health Resources & Services Administration, the Maternal and Child Health Bureau, and the American Academy of Pediatrics.

For Parents and Patients

Understanding NF1 (Harvard University)
A medical resource about NF1 for parents, patients, and providers from the Harvard Medical School Center for Neurofibromatosis and Allied Disorders; offers several frequently asked questions and their answers.

What is NF1? (GSLC)
From the University of Utah's Genetic Science Learning Center, a brief educational program focusing on the genetics of NF1.

Authors

Author: David A. Stevenson, MD - 11/2004
Reviewing Authors: Karin Dent, MS, CGC - 11/2004
David Viskochil, MD, PhD - 11/2004
Content Last Updated: 2/2009

Page Bibliography

Friedman JM.
Neurofibromatosis 1.
Copyright, University of Washington, Seattle. 1997-2004; (2002) http://www.geneclinics.org/servlet/access?db=geneclinics&site=gt&id=88.... In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Available at http://www.genetests.org/. Accessed on 8/14/04.
A concise and well organized review of NF1 with a focus on gene testing.

Jones KL.
Smith's Recognizable Patterns of Human Malformation.
5th ed. Philadelphia: W. B. Saunders Company; 1997. 0721661157
Concise reviews of syndromes with an emphasis on dysmorphology. Syndromes described in sections broken down into abnormalities, natural history, and etiology.