Fragile X

What is fragile X syndrome?

Fragile X syndrome (Genetic disorder) is the most common form of inherited mental retardation in males and is also a significant cause of mental retardation in females. It affects about 1 in 4,000 males and 1 in 8,000 females and occurs in all racial and ethnic groups.

Nearly all cases of fragile X syndrome are caused by an alteration (mutation) in the FMR1 gene where a DNA segment, known as the CGG triplet repeat, is expanded. Normally, this DNA

segment is repeated from 5 to about 40 times. In people with fragile X syndrome, however, the CGG segment is repeated more than 200 times. The abnormally expanded CGG segment inactivates (silences) the FMR1 gene, which prevents the gene from producing a protein called fragile X mental retardation protein. Loss of this protein leads to the signs and symptoms of fragile X syndrome. Both boys and girls can be affected, but because boys have only one X chromosome, a single fragile X is likely to affect them more severely.

Learning About Fragile X Syndrome

 

National Human Genome Research Institute of the National Institutes of Health (NIH) – Last Reviewed: June 24, 2010

http://www.genome.gov


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