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Commentary| Volume 70, ISSUE 9, P802-803, November 01, 2011

The Fragile X-associated Disorders: Time to Order Fragile X DNA Testing

  • Randi Jenssen Hagerman
    Correspondence
    Address correspondence to Randi Jenssen Hagerman, M.D., Department of Pediatrics, MIND Institute, University of California at Davis Medical Center, 2825 50th Street, Sacramento California 95817
    Affiliations
    Department of Pediatrics, MIND Institute, University of California at Davis Medical Center, Sacramento California
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      The fragile X mental retardation 1 protein (FMRP) is a master protein regulating the transport and subsequent translation of hundreds of messenger ribonucleic acids (mRNAs) into proteins important for synaptic plasticity that impacts intelligence and emotion (
      • Darnell J.C.
      • Van Driesche S.J.
      • Zhang C.
      • Hung K.Y.
      • Mele A.
      • Fraser C.E.
      • et al.
      FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism.
      ). FMRP is missing in males with fragile X syndrome (FXS) and sometimes deficient in carriers and females with FXS. Through evolution the CGG repeat at the 5' end of FMR1 at Xq27.3 has expanded, leading to increased production of FMRP, which has enhanced intelligence and emotional functioning in the evolution of humans.
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