Fragile X Facts - Part 2

 
 

DAILY FACTS

A lot of great stuff has been happening this week as part of the Fragile X Awareness month. First off, let's summarize the Daily Fragile X facts:

  1. The test for Fragile X is called the “FMR1 DNA test for Fragile X”. Fragile X testing will determine the CGG repeat count. The test for Fragile X must be ordered by a physician or a genetic counselor.
  2. Approximately 1 million Americans carry the Fragile X mutation, including approximately 100,000 with fragile X syndrome, and are at risk for developing one of the Fragile X conditions.
  3. All Fragile X conditions are genetic, passed through generations (often unknowingly). You cannot catch Fragile X by being friends with someone who has one of the conditions.
  4. Fragile X can be passed on by premutation carriers of the FMR1 gene mutation who have no apparent signs of FX. In some families a number of individuals may be affected, while in other families a diagnosed individual may be the only known family member to exhibit symptoms. Also, in some families, only premutation carriers are identified, with no other apparently affected family members.
  5. 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 (they will pass along one of their X chromosomes, either the one with the Fragile X gene mutation or the one without). 
  6. 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 (they get his Y chromosome).
  7. The full mutation (over 200 CGG repeats) 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 FMRP.
 
 

KATIE COURIC & YAHOO NEWS

Other news, Katie Couric and Yahoo News have partnered up with the National Fragile X Foundation for this year's Fragile X Awareness Month. Please share this report with friends and family and "let 'em know" why it's important!

FUNDRAISER

Last but not least, fundraiser updates! We are still trying to nail down specifics about our Family Gathering on the 25th and will post that information as soon as it is avaliable. Remember that if we raise Fragile X awareness, we can get Congress to pass laws like the ABLE Act, which ensure a better future for our children. You can help by donating to our fundraiser:

https://www.crowdrise.com/fxaulek15

Learn about the ABLE Act here: https://fragilex.org/2015/advocacy/advocacy-day-posts/the-able-act-explained/