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)
Contains health supervision guidelines and other useful resources for the care of children with genetic disorders; 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 Neurofibromatosis Type 1? (GSLC)
A brief educational overview of single gene disorders that includes the genetics of neurofibromatosis type 1; Genetic Science Learning Center at the University of Utah.

Authors & Reviewers

Last update/revision: February 2009
Current Authors and Reviewers:
Author: David A. Stevenson, MD
Reviewers: Karin Dent, MS, CGC
David Viskochil, MD, Ph.D.

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.