Now Live in the USA: International Fragile X Premutation Registry


According to Fragile X News Today, a new registry recently launched within the United States to spur research into gene premutations linked to fragile X syndrome (FXS). Currently, the International Fragile X Premutation Registry is only live within the U.S.; however, it will be launched internationally at some point in 2021.

International Fragile X Premutation Registry

According to the Registry’s website, the Registry:

was created to facilitate and encourage Fragile X premutation research, including future medication and non-medication treatment and intervention studies that could positively impact your quality of life. Premutation-associated conditions include Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI).

Because these disorders are so rare, and have such a broad range of symptoms, they can be difficult to diagnose and treat. Through this registry, researchers hope to gain an understanding of the association between premutations, health, and treatment within this realm. Registering is also not limited to patients; researchers and clinicians, caregivers, patients, and family members above age 18 are all welcome to enroll.

While the National Fragile X Foundation (NFXF) began the registry, they have been helped by an advisory committee, sourcing medical researchers and professionals from a number of places, including, but not limited to:

  • Rush University Medical Center, Rush Copley Medical Center or Rush Oak Park Hospital
  • Emory University School of Medicine, Department of Genetics
  • UC Davis MIND Institute

To learn how to enroll, or to learn additional information, head here.

What is a Premutation?

According to the CDC:

FXS is caused by a change in a gene that scientists called the fragile X mental retardation 1 (FMR1) gene when it was first discovered. The FMR1 gene makes a protein the scientists called fragile X mental retardation protein (FMRP) that is needed for normal brain development.

Now, every person has four bases of DNA, known as A, C, T, and G. In many people, there are a small amount of CGG repeats within FMR1. Usually, this is somewhere between 5 to 44 repeats. FXS is inherited when someone has over 200 repeats.

However, some people have what is called a Premutation. Basically, this means that there are too many CGG repeats to be “normal” (or to show no symptoms and have no chance of developing FXS). But there are also not enough repeats to entirely have FXS. People with premutations may develop another related condition. Additionally, they are more likely to pass the premutations to their children, who will most likely have a similar premutated condition or develop the full mutation for FXS. An estimated 1 in 148-291 females, and 1 in 290-855 males, have some sort or premutation-related condition.

Fragile X Syndrome (FXS)

Normally, FMRP plays a role in brain development and nervous system function. When FMR1 gene mutations prevent this protein from being made, patients develop FXS. FXS is the most common form of inherited developmental disability which typically affects males more than females. Symptoms and characteristics include:

  • Stuttering
  • Protruding ears, forehead, and chin
  • Flat feet
  • A large head circumference and an elongated face
  • Developmental delays/the skipping of developmental milestones
  • Anxiety and depression
  • Hyperactivity
  • Learning or intellectual disabilities
  • Sensitivity to light and sound
  • Seizures
  • Repetitive movements or language
Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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