Molecular diagnostics and genetic counseling in fragile X syndrome and FMR1-associated disorders

Flora Tassone, Montserrat Milà

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Fragile X syndrome (FXS) is a CGG trinucleotide-repeat disorder and the most common heritable form of intellectually disability and autism.The gold standard diagnosis for FXS uses a combination of Southern blot and PCR analysis. However, in the past few years, several robust PCR-based methodologies, able to amplify expanded alleles even in the full mutation range, with or without methylation, have been developed.In this chapter, we review the usage and application of these methodologies in different settings. Further, we discuss genetic counseling of alleles throughout the range (normal to full mutation) in both males and females.

Original languageEnglish (US)
Title of host publicationFragile X Syndrome
Subtitle of host publicationFrom Genetics to Targeted Treatment
PublisherElsevier
Pages41-55
Number of pages15
ISBN (Electronic)9780128045077
ISBN (Print)9780128044612
DOIs
StatePublished - May 26 2017

Keywords

  • AGG interruption
  • CGG repeat
  • Fragile X syndrome
  • FXPOI
  • FXTAS
  • Genetic counseling
  • Methylation
  • Premutation
  • Southern blot
  • Triplet-primed PCR

ASJC Scopus subject areas

  • Neuroscience(all)

Fingerprint Dive into the research topics of 'Molecular diagnostics and genetic counseling in fragile X syndrome and FMR1-associated disorders'. Together they form a unique fingerprint.

  • Cite this

    Tassone, F., & Milà, M. (2017). Molecular diagnostics and genetic counseling in fragile X syndrome and FMR1-associated disorders. In Fragile X Syndrome: From Genetics to Targeted Treatment (pp. 41-55). Elsevier. https://doi.org/10.1016/B978-0-12-804461-2.00003-2