Fragile X Syndrome

FRAGILE X SYNDROME (FXS) is the most common inherited cause of mental disability. Although the precise number of people with this disorder is unknown, the Centers for Disease Control and Prevention has estimated that 1 in 4,000 males and 1 in 6,000 females have FXS. FXS is caused by the absence or dysfunction of a protein called the Fragile X mental retardation protein (FMRP). FMRP is essential to the nervous system because it is necessary for proper nerve maturation and for forming efficient nerve connections in developing embryos. The absence of FMRP in FXS patients is caused by a change, or mutation, in the Fragile X Mental Retardation 1 gene, FMR1. The FMR1 gene is responsible for producing the FMRP protein at the correct time ...