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Fragile X Syndrome (FXS)

Fragile X syndrome (FXS) is an inherited condition that causes varying degrees of intellectual disability, autism, and developmental and behavioral problems.

FXS is caused by pathogenic (disease-causing) variants in the FMR1 gene on the X chromosome and exhibits X-linked dominant inheritance. This means that one pathogenic variant is enough to cause the disease in both males (who have one X chromosome and one Y chromosome) and females (who have two X chromosomes).

Typically, males with a pathogenic variant can experience more severe symptoms compared to females with a pathogenic variant. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Ashkenazi Jewish descent have a 1 in 58 chance to be a carrier. 

Carriers may be at an increased risk for fragile X-associated tremor/ataxia syndrome (FXTAS), premature ovarian insufficiency (FXPOI), and fragile X-associated neuropsychiatric disorders (FXAND). If you are found to be a carrier, a genetic counselor can talk to you in more detail about these risks and what it means. 

Another name for this condition is FMR1-related conditions. 

Resources: 

National Fragile X Foundation 

FRAXA Research Foundation

Our Fragile X World

Revised June 2022

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The Norton & Elaine Sarnoff Center for Jewish Genetics is a supporting foundation of the Jewish United Fund, and is supported in part by the Michael Reese Health Trust.

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jewishgenetics@juf.org

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