Traditionally, a carrier of a genetic mutation is defined as a person who inherits an altered form of a gene but shows no effects of that mutation. However, in Fragile X this definition does not exactly fit, as carriers of a premutation are at risk to develop Fragile X-associated disorders.
Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)
Fragile X-associated primary ovarian insufficiency, one of three known Fragile X-associated disorders caused by changes in the FMR1 gene, is a condition in which the ovaries are not functioning at full capacity in an FMR1 premutation carrier.
Fragile X–Associated Tremor/Ataxia Syndrome (FXTAS)
Fragile X–associated tremor/ataxia syndrome is an “adult onset” neurodegenerative disorder, usually affecting males over 50 years of age. Females comprise only a small part of the FXTAS population, and their symptoms tend to be less severe.
International Fragile X Premutation Registry
Clinicians, researchers, and family representatives from around the world have partnered with the NFXF to create an international premutation research registry.