How many people are affected by or at risk for Fragile X-associated primary ovarian insufficiency (FXPOI)?

Although the exact number of people with an FMR1 premutation is not known, estimates suggest that about 1 in 151 women may have the premutation.1 But only about 20% to 25% of women with a premutation will develop FXPOI.2 Currently, we don’t have any way of knowing which women with the premutation will develop FXPOI.

  1. Seltzer, M. M., Baker, M. W., Hong, J., Maenner, M., Greenberg, J., & Mandel, D. (2012). Prevalence of CGG expansions of the FMR1 gene in a US population-based sample. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 159B(5), 589–597. 
  2. National Fragile X Foundation. (2011). Prevalence of FXTAS. Retrieved September 10, 2012, from External Web Site Policy 

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