The fragile X premutation: into the phenotypic fold.
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.
Hagerman
Randi J
RJ
The MIND Institute and Department of Pediatrics, University of California, Davis, Medical Center, Sacramento, California 95817, USA. randi.hagerman@ucdmc.ucdavis.edu
Hagerman
Paul J
PJ
D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D015995:Prevalence; D016649:Primary Ovarian Insufficiency / Q000235:genetics; D016601:RNA-Binding Proteins
D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human