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Prevalence of Fragile X Syndrome
Based on the best available evidence:
- Approximately 1 in 3600 to 4000 males in the world are born with the full mutation for Fragile X.
Note: The vast majority of males with the full mutation will have fragile X syndrome.
- Approximately 1 in 4000 to 6000 females in the world are born with the full mutation for Fragile X.
Note: Approximately 50% of females with the full mutation will have some features of fragile X syndrome.
- Approximately 1 in 800 men in the world are carriers of the Fragile X premutation.
- Approximately 1 in 260
women in the world are carriers of the Fragile X premutation. (Though a recent 2004 analysis, noted below, suggests that the figure could be as high as 1 in 130.)
For more information about the differences between the premutation and full mutation please use this link: http://www.fragilex.org/html/carriers.htm
In 2004-2005, The
National Fragile X Foundation funded a comprehensive analysis of all known Fragile X prevalence studies, by a noted statistician, Dr. Laurel Beckett at UC Davis, California. A summary of that paper was published in the National
Fragile X Foundation's September 2005 issue of the Foundation Quarterly Journal. That summary is available here: Prevalence White Paper Adapted for Foundation
Quarterly. (The full paper is being submitted to a peer-reviewed journal.)
In 2001 the Centers for Disease Control (CDC) produced a prevalence analysis (which was included in Dr. Beckett's analysis). To view the CDC
report, visit http://www.cdc.gov/genomics/hugenet/factsheets/FS_FragileX.htm
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