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    Newborn Baby Screening For Fragile X Syndrome FMR1 Gene Mutations
    By News Staff | December 23rd 2012 11:20 AM | 8 comments | Print | E-mail | Track Comments

    A study into newborn screening for fragile X syndrome (FXS) demonstrates that testing for mutations in the gene FMR1 can be done on a large scale, according to a paper published in Genome Medicine which shows that the number of carrier babies who carry the form of the gene known as the "premutation" is higher than previously estimated.

    Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and autism, or autism spectrum disorder, and is caused by mutations in the gene FMR1.

    The mutation which causes FXS is not actually in the gene but is due to the addition of extra CGG repeats in the promoter region that controls whether the gene is switched on or off.

    The full mutation of more than 200 CGG repeats prevents proper functioning of the gene and causes FXS, while premutation (55 to 200 repeats) means that the baby has a higher chance of having a child with FXS, and has an increased risk child and adult-onset disorders such as neurological complications. The impact of so called 'grey zone allele' (45 to 54 repeats) on health is currently not as clear, and is the focus of ongoing research. However, the team also found that the Caucasian group had a higher prevalence of grey zone alleles than the Hispanic and African American groups.

    Three large hospitals in the U.S.A. participated in this study, testing more than 14,000 newborns, including children of different ethnic backgrounds. While only one child was identified with the full mutation, the team, led by Dr. Flora Tassone from U.C. Davis found that the prevalence of the premutation was higher than previously suggested, particularly for males (one in 209 females and one in 430 males). 

    Tassone explains, "Our study shows that screening newborns for FXS can be done, but we will also identify carrier and grey zone babies as well as those with a full mutation. Before newborn screening for fragile X mutations is expanded nationally, we need to better understand the impact that identification of the premutation and grey zone allele has on families and systems will need to be in place to address the counseling and educational needs that inevitably will arise."


    Comments

    Just make sure the testing is done BEFORE any vaccination takes place, then after.

    Hank
    You think a vaccine is mutating genes?
    go to www.uscfc.uscourts.gov/opinions_decisions_vaccine/Published to read USA court info that lists developmental delay, death, autism, gene mutation and more

    Hank
    Okay, so I clicked on one and the conclusion was "Petitioner has not presented preponderant evidence to support the claim that  vaccination caused J.T.’s injuries. Accordingly, Petitioner is not entitled to compensation under the Vaccine Act, and the Petition must be DISMISSED."

    Have you actually read any of these?  Or is this just something you copy and paste all over the Internet, in the belief that a judge's ruling replaces science?  Judges also once ruled that the forced sterilization of women for promiscuity and retarded people for being retarded was legal. Do you agree?


    There is 4 pages. The information is of interest because of what is suspected, confirmed and questioned. I haven't read it all but have read one that confirmed gene mutation injury with compensation from the DTaP vaccine

    Hank
    You can't even find which one it was but you know it happened?  A judge once declared that hot McDonald's coffee was worth a million dollar judgment too, that does not make it science.  

    Anyway, you need to be a little more informed about Fragile X and vaccines before you draw nonsensical correlations. You are doing a terrific disservice to parents by promoting nonsense.
    So you are telling me you didn't read for yourself? Maybe you should read them all. As far as I'm concerned there is much disservice in our world, for instance the ability of a company like MERCK to kill an estimated 50,000 to 250,000 consumers with VIOXX without a single MERCK owner or employee serving prison time. Merck makes Gardasil another child killing product. Vaccines are no where near as safe or effective as promoted, and the science inadequate. Doesn't stop the experimentation and misinformation. Personally I haven't caused death or gene mutation or anything else, so I suggest you dirst your investigation in the direction of Pharma and critique them. I'm suggesting people stop blindly following anything without researching it. The site above should raise suspicion that not all is OK in the vaccine industry. Plus I never suggested a judge was all knowing. Certainly evidence from appropriate sources was offered and admitted.

    Gerhard Adam
    ...prevalence of the premutation was higher than previously suggested, particularly for males (one in 209 females and one in 430 males).
    Isn't that backwards?
    Mundus vult decipi