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Screening for fragile X syndrome

J Murray1, H Cuckle, G Taylor

  • 1Centre for Reproduction, Growth & Development, Research School of Medicine, University of Leeds.

Health Technology Assessment (Winchester, England)
|January 1, 1997
PubMed
Summary

Fragile X syndrome, a common cause of learning disability, is caused by a gene mutation. DNA testing can help screen for this disorder, improving diagnosis and understanding of its genetics.

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Area of Science:

  • Genetics
  • Neuroscience
  • Developmental Biology

Background:

  • Fragile X syndrome, a leading genetic cause of intellectual disability, has seen advancements in diagnosis and molecular understanding since the 1991 gene discovery.
  • The disorder presents with characteristic physical features, learning disabilities (severe in males, borderline in females), and behavioral issues resembling autism and ADHD.
  • While not curable, interventions can manage fragile X syndrome symptoms, which affects approximately 1 in 4000 males and 1 in 8000 females.

Purpose of the Study:

  • To review the current understanding of fragile X syndrome genetics and natural history.
  • To evaluate the efficacy and implications of DNA testing for screening and diagnosis.
  • To inform decisions regarding the implementation of screening strategies for fragile X syndrome.

Main Methods:

  • A comprehensive literature search of electronic databases and grey literature.
  • Hand searching of recent publications to ensure up-to-date information.
  • Analysis of genetic mutation types (full mutation and pre-mutation) and their inheritance patterns.

Main Results:

  • The gene mutation involves trinucleotide repeat expansion, leading to gene down-regulation.
  • Full mutations (FM) in males invariably cause the phenotype, while females are affected in about half the cases.
  • Pre-mutation (PM) alleles in females carry a risk of expansion to FM in offspring; no direct expansion from normal to FM alleles observed.

Conclusions:

  • DNA testing offers improved diagnostic capabilities for fragile X syndrome.
  • Screening strategies, including antenatal, preconceptual, and cascade testing, aim to reduce birth prevalence and facilitate early diagnosis.
  • Polymerase chain reaction combined with Southern blotting is the recommended screening test protocol.

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