Key Findings: Prevalence of Fragile X Premutation
Prevalence of CGG Expansions of the FMR1 Gene in a US Population-Based Sample
About Fragile X-Associated Disorders
Fragile X syndrome and fragile X-associated disorders are genetic disorders. A genetic disorder means that there are changes to a person’s genes. These two conditions are caused by changes to the FMR1 gene. The FMR1 gene is important for normal brain development. People with a premutation in the FMR1 gene do not have fragile X syndrome, but they are at risk for fragile X-associated disorders. Women with a premutation are at increased risk of having a child with fragile X syndrome and all people with the premutation are at risk for other symptoms.About the Study
Researchers from the University of Wisconsin-Madison’s Waisman Center, together with researchers from the Centers for Disease Control and Prevention (CDC), have published a new study describing the number of people who have a premutation in their FMR1 gene. You can read the abstract of the article here.Main Findings from This Study
This study showed a higher number of people having a premutation in the FMR1 gene than was found in previous research. This study also suggested that people with a fragile X premutation are more likely to report symptoms associated with fragile X-associated disorders. Having a fragile X premutation can pose challenges at all ages.- As reported in this paper, the frequency of fragile X premutation was as follows:
- 1 in 151 females, or about 1 million women in the United States.
- 1 in 468 males, or about 320,000 men in the United States.
- These statistics are important because both men and women are at risk for having symptoms linked to fragile X-associated disorders.
- Women with a premutation reported their last menstrual cycle at an earlier age than women without a premutation (48 vs. 51 years).
- Men and women with a premutation were more than four times as likely to report dizziness or fainting as people without a premutation (18% vs. 4%). Men and women with a premutation were more than twice as likely to report numbness as people without a premutation (29% vs. 13%).
- Twenty-three percent of people with a premutation had a child with a disability.
- Twelve percent of people without a premutation had a child with a disability.
Changes in the FMR1 gene can be identified using a blood test. A doctor or genetic counselor can order the test. The results of a DNA test can affect other family members and can raise many other issues. Read more about a diagnosis of Fragile X Syndrome.
Next Steps
CDC has studied fragile X syndrome and fragile X-associated disorders since 2005. CDC’s goal is to conduct research to learn more about these conditions, and use this research to improve the health and well-being of people with fragile X syndrome and fragile X-associated disorders. Read more about this work.More Information
- Health problems among fragile X carriers
- Additional resources
Reference for Key Findings Summary
Prevalence of CGG expansions of the FMR1 gene in a US population-based sample.American Journal of Medical Genetics Part B Neuropsychiatric Genetics; May 22, 2012 (Epub ahead of print)
Seltzer, M, et al.
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