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Randi J. Hagerman, MD; Paul J. Hagerman, MD, PhD

JAMA. 2008;300(20):2419-2421.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

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.

Because of the risks associated with these disorders, newborn screening is being considered. The recent development of an accurate and inexpensive blood spot screening test capable of identifying both premutation and full mutation alleles¹ is facilitating at least 2 large-scale newborn screening studies to move forward in the United States. Newborn screening for . . . [Full Text of this Article]

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.