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What is Fragile X Syndrome (FXS)

What Is Fragile X Syndrome?

Fragile X syndrome, also called Martin-Bell syndrome, is a genetic disorder that leads to developmental and intellectual disabilities. It may be passed down to children from their mothers or fathers. It is the most common hereditary cause of mental problems in male children. While the condition also affects girls, boys tend to face more serious symptoms. Fragile X syndrome is a chronic disease that lasts the whole lifetime. With proper treatments, some individuals can still lead an independent lifestyle. [1]

Causes of Fragile X Syndrome

The main cause of fragile X syndrome is defective or mutated FMR1 gene on the X chromosome. Along with the Y chromosome, this is one of the two forms of sex chromosomes in the human bodies. Males have 1 X and 1 Y chromosome, while females have 2 X chromosomes. When this defect occurs, the gene cannot produce the fragile X mental retardation protein (FMR1), which plays an important part in the nervous system. As a result, a lack of this protein leads to fragile X syndrome. [2]