The fragile X syndrome

  title={The fragile X syndrome},
  author={Andr{\'e} T. Hoogeveen and Ben A. Oostra},
  journal={Journal of Inherited Metabolic Disease},
The fragile X syndrome is caused by the amplification of a polymorphic CGG repeat in the 5′ untranslated region of the FMR1 gene and is the most common form of inherited mental retardation. When the repeat is amplified beyond 200 repeat units, the repeat and the FMR1 promoter region are methylated. As a result of this methylation the gene is silenced and no FMR1 gene product (FMRP) is translated. The lack of expression of FMRP in the fragile X syndrome causes the fragile X phenotype. A mouse… CONTINUE READING
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