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

A multi-generational family with Fragile X

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.

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A married couple hoping to plan a family.

Reproductive Resources

Fragile X family planning resources include carrier screening, genetic counseling, reproductive options, and associated costs.

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Fragile X-Associated Conditions

A family made up of four adults and one young child

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.

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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.

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Two scientists

New Developments

Discover research currently underway to look at various issues that may be seen in people with the Fragile X premutation, and associated conditions.

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