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Frequently Asked Questions
What causes Fragile X Syndrome?
Fragile X syndrome is caused by a mutation in the FMR1 gene, which results in the absence or reduced production of a protein called FMRP. This disrupts brain development and function, leading to intellectual disabilities, learning difficulties, social and behavioral challenges, and physical features associated with fragile X syndrome.
What is methylation in context with Fragile X Syndrome?
Methylation is a process in which a chemical group, called a methyl group, gets added to the DNA. When enough methyl groups are added to the DNA, the gene gets turned off. When methyl groups are removed, the gene gets turned on. This is a normal process and many of our genes are controlled by methylation. However, in Fragile X Syndrome, the methylation of the FMR1 gene turns the gene off when it should be turned on. When FMR1 is turned off, its protein is not made, and you see the features of Fragile X Syndrome.
Why does my daughter have Fragile X Syndrome?
Girls can also have Fragile X Syndrome even though they have two X chromosomes. The reason is that they have a full expansion on one chromosome and a normal repeat section (in most cases) on the other. The copy with the full expansion is not making any FMR1 protein, while the other copy is. Although some protein is being made, it may not be enough, so we can see characteristics of Fragile X Syndrome. However, because some protein is being made, girls with Fragile X Syndrome are generally less affected than boys.
Being a female Fragile X carrier, am I at risk for anything?
“They are called carriers because they carry a specific gene they pass onto their children. They carry all the hopes and dreams possible for their children. They carry their fears, anxiety, struggles, defeat and pain. They carry they joy of success and the disappointment of development delays. They carry a favourite toy or a funny cap to bring comfort and security wherever they go. They carry mental ammunition to school and doctor meetings. They carry the strength to defy all odds and march on with fortified courage and unconditional love. These are the carriers I know.”- Dr. Marcia Braden