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.

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