The fragile X premutation: Into the phenotypic fold

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205 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)278-283
Number of pages6
JournalCurrent Opinion in Genetics and Development
Issue number3
StatePublished - Jun 1 2002

ASJC Scopus subject areas

  • Genetics


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