Prenatal Diagnosis and the Spectrum of Involvement from Fragile X Mutations

Research output: Chapter in Book/Report/Conference proceedingChapter


This chapter reviews epidemiology, clinical involvement, genetic counseling, prenatal diagnostic procedures, and treatment in the fragile X spectrum disorders. The lack of fragile X mental retardation-1 protein (FMRP) leads to a seizure phenotype in the fragile X knockout (KO) mouse that improves with the use of metabotropic glutamate receptor 5 (mGluR5) antagonists as a targeted treatment for fragile X syndrome (FXS).Of the premutation-associated disorders, one can understand the most about the pathogenic mechanisms linked to FXTAS; however, similar mechanisms may be at play for both the neurodevelopmental involvement and in the early menopausal features (FXPOI). The chapter focuses on FXTAS. For X-linked disorders, including FXS, preimplantation genetic diagnosis (PGD) has been conducted successfully using multiplex nested PCR, which simultaneously tests for multiple X-linked markers. The complexity of genetic counseling has intensified with the emergence of premutation involvement in varied manifestations, including the aging problems and neurodevelopmental problems.

Original languageEnglish (US)
Title of host publicationGenetic Disorders and the Fetus: Diagnosis, Prevention and Treatment: Seventh Edition
Number of pages16
ISBN (Electronic)9781118981559
ISBN (Print)9781118981528
StatePublished - Jan 1 2016


  • Fragile X mental retardation-1 protein
  • Fragile X spectrum disorders
  • Genetic counseling
  • Preimplantation genetic diagnosis
  • Premutation-associated disorders
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Medicine(all)


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