The cause of Noonan syndrome is a mutation in a particular gene. Currently, scientists know of eight genes that can cause Noonan syndrome.
The mutation can be inherited from a parent who carries the defective gene (autosomal dominant), or it can develop because of a new mutation in children who don't have a genetic predisposition for the disease. Children who have one parent with Noonan syndrome have a 50 percent chance of developing the disorder.
Defects in these genes cause them to produce proteins that are continually active. Because these genes play a role in the formation of many tissues throughout the body, this constant activation of their proteins disrupts the normal process of cell growth and division.
Aug. 03, 2013
- Roberts AE, et al. Noonan syndrome. The Lancet. 2013;381:333.
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- Noonan syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/noonan-syndrome. Accessed June 8, 2013.
- Learning about Noonan syndrome. National Human Genome Research Institute. http://www.genome.gov/pfv.cfm?pageID=25521674. Accessed June 8, 2013.
- Romano AA, et al. Noonan syndrome: Clinical features, diagnosis, and management guidelines. Pediatrics. 2010;126:745.
- Reye's syndrome information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/reyes_syndrome/reyes_syndrome.htm. Accessed June 8, 2013.
- Hoecker JL (expert opinion). Mayo Clinic, Rochester, Minn. June 27, 2013.
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