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.