32. 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.
33. The FMR1 gene — identified in 1991 — makes a protein called FMRP that’s important in brain development. Individuals with Fragile X syndrome have a deficiency of this protein.
34. Mutations, or changes, in the FMR1 gene lead to developing one of the Fragile X conditions.
35. 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.
36. Fragile X is diagnosed through a DNA sample, usually from blood, but amniotic fluid and other tissues can also be tested.
37. 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.
38. Fragile X conditions are inherited genetically, passed through generations often unknowingly.
39. If even one person is diagnosed with Fragile X, members of their family should get tested, too! Make a family tree to see who is at risk.
40. 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.
41. 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).
42. 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.
43. Approximately 1 in 3,600 to 4,000 males and 1 in 4,000 to 6,000 females have the full mutation of Fragile X (Fragile X syndrome).
44. 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!
45. Sometimes people with FXS need space when things become too loud or overwhelming. Access to peace and quiet helps them to calm down.
46. 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!
47. Given the proper education, therapy, and support, all people with FXS can make progress and live happier fuller lives.
48. As many as 1 in every 151 women and 1 in every 468 men are premutation carriers of the Fragile X gene.
49. Fragile X-associated primary ovarian insufficiency (FXPOI) occurs in approximately 22% of female premutation carriers, and is a cause of infertility, early menopause and other ovarian problems.
50. 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).
51. Features of FXTAS may include: balance problems (ataxia), intention tremors (when reaching for something), memory loss, mood instability or irritability, neuropathy (numbness of extremities), and cognitive decline
52. Fragile X premutation carriers are at a higher risk for high blood pressure, depression, anxiety, hypothyroidism, chronic pain and sleep apnea
53. 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.
54. The NFXF launched the NFXF International Fragile X Premutation Registry in 2021 to accelerate research into Fragile X treatments and a cure!