31 Shareable Fragile X Facts

For National Fragile X Awareness Month, we shared one fact a day for each day of the month, which we’ve also collected here. If you share them, please use the hashtag #FragileX!

• 1. Fragile X is a family of conditions: Fragile X syndrome (FXS), Fragile X-associated tremor/ataxia syndrome (FXTAS), Fragile X-associated primary ovarian insufficiency (FXPOI), and more emerging premutation carrier issues we are just learning about.
• 2. The gene responsible for Fragile X is called FMR1 and is found on the X chromosome. Everyone has the FMR1 gene on their X chromosome.

• 3. The FMR1 gene was identified in 1991. The FMR1 gene makes a protein (FMRP) that is important in brain development. Individuals with Fragile X syndrome have a deficiency of this protein.
• 4. Mutations, or changes, in the FMR1 gene lead to developing one of the Fragile X conditions.
• 5. Fragile X mutations can be classified as “normal,” “gray zone,” “premutation carrier,” or “full mutation.” These are defined by the number of CGG repeats in one’s DNA.
• 6. Fragile X is diagnosed through a DNA sample, usually from blood, but amniotic fluid and other tissues can also be tested.
• 7. The test for Fragile X is called the “FMR1 DNA test for Fragile X.” The test for Fragile X must be ordered by a physician or a genetic counselor.
• 8. Fragile X conditions are inherited genetically, passed through generations often unknowingly.
• 9. If even one person is diagnosed with Fragile X, members of his/her family should get tested, too! Make a family tree to see who is at risk.
• 10. Females who are premutation carriers of the Fragile X gene mutation have a 50/50 chance of passing the gene mutation to each of their children.
• 11. Males who are premutation carriers of the Fragile X gene will pass the gene to all of their daughters (giving them his X chromosome) but none of his sons (his Y chromosome).
• 12. The full Fragile X mutation causes the FMR1 gene to “turn off” and not work properly, a process called methylation. When this happens, the gene does not produce any or enough Fragile X protein.
• 13. Approximately 1 in 3,600 to 4,000 males and approximately 1 in 4,000 to 6,000 females have the full mutation of Fragile X.
• 14. Fragile X syndrome is the leading known cause of inherited intellectual disability. Fragile X syndrome occurs in both males and females.
• 15. Females with Fragile X syndrome generally have milder symptoms than their male counterparts.
• 16. Fragile X syndrome is the leading known genetic cause of autism. Approximately 2-6% of children with autism are diagnosed with Fragile X syndrome.
• 17. Fragile X syndrome can cause a variety of behaviors like shyness, anxiety, difficulty making eye contact and short attention spans.
• 18. People with Fragile X syndrome have many strengths. Many of them have great memory, love to help others and have a great sense of humor!
• 19. You may find it difficult to understand a person with FXS because some have rapid and repetitive speech. It just takes time to learn the speech patterns, but they have a lot of great things to say!
• 20. Sometimes people with FXS need space when things become too loud or overwhelming. Access to peace and quiet helps them to calm down.
• 21. People with FXS usually want to be social, but can be shy or overcome with anxiety. You just have to be patient, smile and talk to them!
• 22. Given the proper education, therapy, and support, all people with FXS can make progress and live happier fuller lives.
• 23. As many as 1 in every 151 women and 1 in every 468 men are premutation carriers of the Fragile X gene.
• 24. FXPOI (fragile X-associated primary ovarian insufficiency) occurs in approximately 22% of female premutation carriers, and is a cause of infertility, early menopause and other ovarian problems.
• 25. Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult onset (age 50+) condition that can cause neurological and psychiatric symptoms in premutation carriers (more common in males).
• 26. FXTAS is often initially misdiagnosed as Parkinson’s disease, Alzheimer’s, or a stroke. Features may include: balance problems (ataxia), intention tremors (when reaching for something), memory loss, mood instability or irritability, neuropathy (numbness of extremities), and cognitive decline
• 27. Fragile X premutation carriers are at a higher risk for high blood pressure, depression, anxiety, hypothyroidism, chronic pain and sleep apnea
• 28. Reasons to get tested for Fragile X: A family history of: intellectual disabilities, developmental delay, speech and language delay, and autism or learning disabilities of unknown cause.
• 29. There is a lot of exciting research in the Fragile X field. Scientists and clinicians have recently shown hope for improvements in testing for better drugs and treatment.
• 30. This year, the NFXF launched the NFXF International Fragile X Premutation Registry to accelerate research into Fragile X treatments and a cure!
• 31. You are not alone! We have a website full of resources, a friendly and responsive staff, and a nationwide network of volunteers here for you.