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Causes
By Mayo Clinic staff
Stickler syndrome is an inherited disorder caused by mutations in certain genes involved in the formation of a protein called collagen. Collagen is the building block of many types of connective tissues, which support your body's internal structures.
Genes are segments of DNA that "code" for all of your characteristics — including traits you can see, such as eye color, and traits you can't see but that can affect your health, such as the propensity to develop high cholesterol.
You receive your genes, which occur in pairs, from your parents. One half of each pair is inherited from your mother, and the other half is from your father. Some gene pairs can be made up of one dominant gene and one recessive gene. In these instances, the effect of a dominant gene "masks" the effect of a recessive gene. This pattern of inheritance is called autosomal dominant inheritance. If a dominant gene is mutated — as in the case of Stickler syndrome — disease may result.
If you have Stickler syndrome and your partner does not, the chances that you'll pass the condition on to any of your children is 50 percent. Rarely, people may develop Stickler syndrome without inheriting a mutant gene. In these cases, Stickler syndrome results from a random mutation in one or more of your genes. It's not certain why random gene mutations occur.
- Stickler syndrome. Genetics Home Reference. http://www.ghr.nlm.nih.gov/condition=sticklersyndrome. Accessed Sept. 4, 2008.
- Stickler GB [expert opinion]. Mayo Clinic, Rochester, Minn. March 28, 2008.
- About Stickler syndrome. Stickler Syndrome Support Group. www.stickler.org.uk/info.htm. Accessed Sept. 4, 2008.
- Francomano C, et al. Stickler syndrome. In: Cassidy SB, et al. Management of Genetic Syndromes. 2nd ed. Hoboken, N.J.: Wiley-Liss; 2005;539-546.
