[Skip to Content]
[Skip to Content Landing]
November 26, 2008

Testing for Fragile X Gene Mutations Throughout the Life Span

Author Affiliations

Author Affiliations: M.I.N.D. Institute (Dr R. Hagerman), and Departments of Pediatrics (Dr R. Hagerman) and Biochemistry and Molecular Medicine (Dr P. Hagerman), School of Medicine, University of California, Davis.

JAMA. 2008;300(20):2419-2421. doi:10.1001/jama.2008.684

Mutations of a single gene, fragile X mental retardation 1 (FMR1), give rise to a family of disorders occurring throughout the entire life span, including the most common heritable form of intellectual disability, fragile X syndrome, and premature menopause (primary ovarian insufficiency). Moreover, mutations of FMR1 are the cause of one of the most common single-gene, late-onset neurodegenerative disorders, fragile X–associated tremor/ataxia syndrome (FXTAS). Some clinicians might assume they will rarely if ever encounter one of these disorders; that assumption would be both false and unwise.