31 Shareable Fragile X Facts | NFXF (original) (raw)

31 Shareable Fragile X Facts

31 Shareable Fragile X FactsDan Whiting2023-07-21T14:23:45-04:00

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!

Share or download 31 Sharable Fragile X Facts:

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.

Fragile X syndrome occurs in both males and females who have a full mutation of the FMR1 gene.

4. Approximately 1 in 7,000 males and 1 in 11,000 females have 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.

6. Fragile X-associated primary ovarian insufficiency, or FXPOI, is a condition in which the ovaries are not functioning at full capacity in an individual with the FMR1 premutation.

7. Fragile X–associated tremor/ataxia syndrome, or FXTAS, is an “adult-onset” neurodegenerative condition associated with the Fragile X premutation.

8. Fragile X is genetic, meaning it is caused by a change in the gene.

Fragile X is also hereditary, meaning this gene change can be passed from one generation to the next. Fragile X is unique among rare diseases because it is both genetic and hereditary.

9. Fragile X is an “X-linked” condition, which means the FMR1 gene is on the X chromosome.

Males have one X and one Y chromosome and females have two X chromosomes. Both males and females can have Fragile X syndrome or the Fragile X premutation.

10. Fragile X needs only one parent to pass the gene along.

This is different from many other conditions where both parents need to have the “carrier” gene.

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.

14. About 20% of women with the Fragile X premutation develop primary ovarian insufficiency over their reproductive life span, compared with only 1% in the general population.

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.

16. Among individuals with the Fragile X premutation, about 40% of males older than 50 years and 8%–16% of women older than 40 years will develop FXTAS.

17. Fragile X syndrome, or FXS, has been documented worldwide, in all populations and ethnic groups.

18. Fragile X is a fairly “new” condition.

Fragile X was first termed Martin-Bell syndrome in 1943. In the 1990s, genetic testing technologies improved, and the specific gene associated with Fragile X syndrome — FMR1 — was discovered.

19. Fragile X is diagnosed by a simple yet highly accurate DNA test.

Individuals find out their CGG repeat number, which determines their Fragile X status.

20. The FMR1 gene makes a very important protein called FMRP (Fragile X protein) that is found in all of our cells and performs very specific tasks.

FMRP is especially important for brain development. Expansions in CGG repeats can impact our body’s ability to make this important protein.

21. Everyone has the FMR1 gene.

The FMR1 gene lives on each X chromosome. Everyone has CGG repeats on the FMR1 gene. Most people have CGG repeats below 45, which means they do not have Fragile X.

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.

24. Fragile X syndrome, or FXS, is the most common single gene linked to autism, accounting for about 1%-6% of all cases of ASD.

25. Fragile X syndrome, or FXS, is diagnosed by a DNA blood test, unlike autism, which is a behaviorally defined diagnosis.

26. Individuals with Fragile X syndrome are “gestalt” learners who need to see and understand the “whole” and not the parts that add to a whole.

27. Individuals with Fragile X syndrome are visual learners.

Visual schedules help ease their anxiety and can prevent over-stimulation.

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!

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31 Shareable Fragile X Facts | NFXF (original) (raw)