Fragile X Syndrome (FXS) also known as Martin-Bell Syndrome, was first described in 1943 by Martin and Bell as a form of intellectual disability (ID) following an X-linked inheritance pattern. Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named full mutation greater than 200 CGG repeats), in the fragile X mental retardation 1 gene locus Xq27.3; which leads to an hyper-methylated region in the gene promoter therefore silencing it and lowering the expression levels of the fragile X mental retardation 1, a protein involved in synaptic plasticity and maturation.
What causes Fragile X Syndrome?
• Fragile X is brought about by a change in a solitary quality. In individuals with Fragile X, a deformity (a full transformation) kills the quality. Like a flawed production line, it can't fabricate the protein that it ordinarily makes.
• Fragile X influences 1 of every 4000 guys and 1 out of 6000 females, all things considered, and ethnic gatherings (source CDC). Around 1 of every 259 ladies convey Fragile X and could pass it to their kids. Around 1 out of 800 men convey Fragile X; their little girls will likewise be transporters.
• Fragile X disorder is the #1 acquired reason for scholarly inabilities and the most well-known reason for chemical imbalance around the world. The vast majority with Fragile X are not yet analyzed.
• A mother who conveys Fragile X has a half possibility of passing the changed quality to every one of her youngsters. Her kids will either be transporters or they will be have Fragile X condition. Transporter men will pass the premutation to every one of their little girls however none of their children. These girls are transporters yet they don't have Fragile X condition. The Fragile X premutation can be gone quietly down through ages in a family before a kid is brought into the world with the condition.
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