Access to paid content on this site is currently suspended due to excessive activity being detected from your IP address Please contact the publisher to request reinstatement.
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.

First Page Preview View Large
First page PDF preview
First page PDF preview