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. 2008 Nov 26;300(20):2419-21.
doi: 10.1001/jama.2008.684.

Testing for fragile X gene mutations throughout the life span

Randi J Hagerman  1 , Paul J Hagerman
Affiliations

Testing for fragile X gene mutations throughout the life span

Randi J Hagerman et al. JAMA. .

Erratum in

  • JAMA. 2009 Feb 11;301(6):602
No abstract available

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Figures

Figure
Figure. Expression of the FMR1 Gene and Associated Clinical Disorders
Expression of the fragile X mental retardation 1 (FMR1) gene depends on the length of the CGG repeat. Premutation alleles result in elevated mRNA levels (increased RNA synthesis). Within this CGG repeat range, the expanded CGG repeat in FMR1 mRNA partially blocks translation to an extent that depends on the size of the repeat. Full mutation alleles are generally hypermethylated and silenced, thus producing little or no mRNA or protein. The excess premutation mRNA is now believed to give rise to the premutation-specific disorders, fragile X–associated tremor/ataxia syndrome and primary ovarian insufficiency, and may also contribute to developmental delays, attention-deficit/hyperactivity disorder, or autism spectrum disorders in some children with the premutation. By contrast, fragile X syndrome is caused by the absence of the FMR1 mRNA and protein (FMRP). In the upper portion of the premutation CGG repeat range, mRNA toxicity and reduced FMRP levels may both contribute to clinical involvement. UTR indicates 5′ untranslated region.
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References

    1. Tassone F, Pan R, Amiri K, Taylor AK, Hagerman PJ. A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations. J Mol Diagn. 2008;10(1):43–49. - PMC - PubMed
    1. Bailey DB, Jr, Skinner D, Sparkman KL. Discovering fragile X syndrome: family experiences and perceptions. Pediatrics. 2003;111(2):407–416. - PubMed
    1. Loesch DZ, Bui QM, Dissanayake C, et al. Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X. Neurosci Biobehav Rev. 2007;31(3):315–326. - PMC - PubMed
    1. Farzin F, Perry H, Hessl D, et al. Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation. J Dev Behav Pediatr. 2006;27(2 suppl):S137–S144. - PubMed
    1. Song FJ, Barton P, Sleightholme V, Yao GL, Fry-Smith A. Screening for fragile X syndrome: a literature review and modeling study. Health Technol Assess. 2003;7(16):1–106. - PubMed

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