July is Fragile X Awareness month and the National Fragile X Foundation has put together a lot of things to help us get the word out about Fragile X. Each day they have a new fact that can be shared on social media. I'd like to summarize this week's facts:
- Fragile X encompasses a group of conditions that can affect family members in different ways: fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXPOI), and other premutation carrier issues.
- 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.
- The FMR1 gene was identified in 1991. The “job” of the FMR1 gene is to make protein (FMRP) that is important in brain development. Individuals with fragile X syndrome have a deficiency of this protein.
- Changes in the FMR1 gene are what lead to developing one of the Fragile X conditions.
- Changes (mutations) in the FMR1 gene are defined by the expanded number of CGG repeats seen in the DNA:
- “Normal” is 5-44 CGG repeats
- “Gray Zone” is 45-54 CGG repeats
- “Premutation Carrier” is 55-200 CGG repeats
- “Full mutation” is more than 200 CGG repeats
- Fragile X is diagnosed through a DNA sample, most typically from blood, but amniotic fluid and other tissues can also be tested.
Part of the Fragile X Awareness month is to also raise funds as part of the Let 'Em Know campaign. The more people know about Fragile X the easier it is to improve the lives of individuals & families living with Fragile X through education, awareness, and research. You can help by giving today!