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Curr Opin Genet Dev. 2002 Jun;12(3):278-83.

The fragile X premutation: into the phenotypic fold.

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The MIND Institute and Department of Pediatrics, University of California, Davis, Medical Center, Sacramento, California 95817, USA.


Premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 gene (FMR1) are known to contribute to the fragile X phenotype through genetic instability and transmission of full mutation alleles (>200 repeats). There is now mounting evidence that the premutation alleles themselves contribute to clinical involvement, including premature ovarian failure among female carriers and a new tremor/ataxia syndrome among older male carriers. Recent observations also provide direct evidence of dysregulation of the FMR1 gene in the premutation range, which may explain many of the clinical observations.

[Indexed for MEDLINE]

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