What Is Fragile X Syndrome?
Reviewed: Dr. Gromatzky
7. Occurrence
One of 50 people worldwide have a slight mutation in the FMR1 gene that does not cause any problems. In the U.S., 1.5 million people carry the full mutation, with 100,000 of these exhibiting the symptoms of fragile X syndrome. Worldwide, fragile X syndrome occurs in approximately 1 in 3,600 to 4,000 males and 1 in 4,000 to 6,000 females.
Lesser forms of the mutation responsible for associated disorders are found in 1 in 468 males and 1 in 151 females worldwide. One study in Israel found 1 in 130 women to be carriers of the mutation. Twenty to 25% of these women have FXPOI, and 30 to 40% of men have FXTAS.
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