The Fragile X Premutation
Learn about the Fragile X premutation, family planning resources, new developments, and more about the two associated conditions, FXTAS and FXPOI.
The Basics
What is the Fragile X Premutation?
The Fragile X premutation is one type of mutation within the Fragile X FMR1 gene. As many as 1.5 million people in the U.S. have the premutation, many unknowingly.
Reproductive Resources
Fragile X family planning resources include carrier screening, genetic counseling, reproductive options, and associated costs.
Fragile X-Associated Conditions
FXTAS
Fragile X-associated tremor/ataxia syndrome, or FXTAS, is a late-onset neurodegenerative disorder seen more commonly in males. Learn more about who should be tested, the diagnostic criteria for a diagnosis, resources, and clinic options.
FXPOI
Fragile X-associated primary ovarian insufficiency, or FXPOI, causes the ovaries to lose their normal function. Learn more about the prevelance of FXPOI, signs and symptoms, testing, and treatment options.
Join the International Fragile X Premutation Registry
If you have the premutation or are related to someone who is, you can contribute to future discoveries that will help our and the worldʼs understanding of how the Fragile X premutation affects health by joining the International Fragile X Premutation Registry.