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.
- 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.
- National Fragile X Foundation. (2011). Prevalence of FXTAS. Retrieved September 10, 2012, from http://www.fxtas.org/prevalence.htm