Journal
CURRENT OPINION IN GENETICS & DEVELOPMENT
Volume 12, Issue 3, Pages 278-283Publisher
CURRENT BIOLOGY LTD
DOI: 10.1016/S0959-437X(02)00299-X
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- NICHD NIH HHS [HD36071] Funding Source: Medline
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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.
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