31 Shareable Fragile X Facts
Fragile X is complex, and it can be challenging to explain. That’s why we developed a set of facts you can use as talking points for Fragile X Awareness Month in July … and all year long!
1. July is Fragile X Awareness Month!
We understand the ups and downs that come with Fragile X; we’re here to support you during the challenging times and celebrate the wins! Join us as we share more about Fragile X every year throughout the month of July. Each day we present a new shareable fact for you to share on your social media, and with family and friends! Help raise awareness for #FragileX by sharing the facts and your story.
2. Fragile X is a group of conditions associated with alterations in the FMR1 gene on the X chromosome.
These changes result in a “premutation,” which can lead to Fragile X-associated conditions and disorders like Fragile X-associated tremor/ataxia syndrome, Fragile X-associated primary ovarian insufficiency, or a “full-mutation,” which causes Fragile X syndrome.
5. Fragile X syndrome is considered a rare disease.
Rare diseases are defined as less than 200,000 individuals in the United States. It is estimated that about 100,000 Americans have Fragile X syndrome. The Fragile X premutation is not rare; it is estimated that up to 1 in 151 females and 1 in 468 males have the Fragile X premutation.
11. 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.
Not the case with Fragile X, as “carriers” of the Fragile X premutation can be impacted even by the partial mutation. Individuals with the Fragile X premutation are at risk of developing Fragile X-associated conditions and disorders including Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI).
12. Fragile X-associated primary ovarian insufficiency, or FXPOI, is a condition associated with females with the FRM1 premutation.
The ovaries in women with FXPOI do not function to full capacity, and women with FXPOI may struggle to get pregnant and experience irregular menstrual cycles and early menopause.
13. Some women with the Fragile X premutation are initially identified because they have fertility problems and are considering fertility treatment.
There are various assisted reproductive options that individuals with the Fragile X premutation may consider, including IVF with their own eggs, IVF with eggs donated by a non-carrier, attempting to get pregnant naturally, or adoption. Some may consider prenatal genetic testing through amniocentesis or chorionic villus sampling (CVS) to evaluate the genetic status of your pregnancy.
15. Fragile X–associated tremor/ataxia syndrome, or FXTAS, is associated with the FMR1 premutation.
FXTAS is an “adult-onset” neurodegenerative condition, 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. FXTAS progresses at varying rates in different individuals.
22. Individuals with CGG repeats on the FMR1 gene over 200 receive a Fragile X syndrome diagnosis.
Fragile X syndrome is not known to be more severe with a higher repeat number. For example, we would not expect someone with a CGG repeat of 700 to be more affected than someone with a repeat number of 205.
23. Fragile X and autism are not the same, though there are similarities.
Autism is generally characterized by an impairment in social interaction and communication, and the presence of restricted and repetitive patterns of behavior, interests, or activities. Some individuals with Fragile X syndrome also have an autism diagnosis.
28. Carrier screening for many conditions, including Fragile X, is available.
Some families may choose to do carrier screening prior to starting a family. Other families may choose to do carrier screening when they find out a member of their family has been diagnosed with a genetic condition that prompts carrier screening. Some individuals may never choose to be screened.
29. Primary care physicians or OB-GYNs may offer carrier screening services.
There are also several options for at-home or lab-based carrier screening. Many carrier screenings include screening for many conditions. If you are interested in being screened for Fragile X, you should confirm Fragile X is included in the screening panel.
30. There is a lot of Fragile X research going on — including research for individuals with Fragile X syndrome, the Fragile X premutation, FXPOI, and FXTAS.
Some of these studies even need participants without Fragile X to serve as a group to compare to — or a “control” group. You can review the active research opportunities by visiting the NFXF’s MyFXResearch portal.
31. The FMR1 gene has officially been renamed!
FMR1 now stands for Fragile X messenger ribonucleoprotein 1, removing the reference to “mental retardation” that has long been outdated in the common vernacular. At the time of the gene’s discovery, “mental retardation” was an accepted term for what we now call “intellectual disability.” We know that individuals with Fragile X are more than an intellectual disability!