Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

The fragile X syndrome

B B de Vries1, D J Halley, B A Oostra

  • 1Department of Clinical Genetics, University Hospital Dijkzigt and Erasmus University, Rotterdam, The Netherlands.

Journal of Medical Genetics
|July 25, 1998
PubMed
Summary

Fragile X syndrome, a genetic disorder, is diagnosed by identifying expanded CGG repeats in the FMR1 gene. This molecular diagnosis replaced older methods and aids in screening and family studies.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Somatic, positive and negative domains of the Center for Epidemiological Studies Depression (CES-D) scale: a meta-analysis of genome-wide association studies.

Psychological medicine·2016
Same author

GWAS for executive function and processing speed suggests involvement of the CADM2 gene.

Molecular psychiatry·2015
Same author

Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53949).

Molecular psychiatry·2015
Same author

Genome-wide analyses of borderline personality features.

Molecular psychiatry·2013
Same author

Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.

The pharmacogenomics journal·2013
Same author

Decreased systemic IL-7 and soluble IL-7Rα in multiple sclerosis patients.

Genes and immunity·2012

Area of Science:

  • Genetics
  • Molecular Biology
  • Neurodevelopmental Disorders

Background:

  • Fragile X syndrome presents with intellectual disability, behavioral issues, and distinct physical characteristics.
  • The fragile X mental retardation (FMR1) gene was identified in 1991, revolutionizing diagnosis.
  • It is a prime example of a disorder caused by trinucleotide repeat expansion.

Purpose of the Study:

  • To detail the molecular basis of fragile X syndrome.
  • To explain the role of the FMR1 gene and CGG repeat expansion.
  • To highlight advancements in diagnosis and screening.

Main Methods:

  • Molecular diagnosis using identification of CGG repeat numbers in the FMR1 gene.
  • Characterization of the FMR1 gene and its protein product, FMRP.
  • Analysis of CGG repeat ranges in affected individuals, carriers, and the general population.

Main Results:

  • Normal CGG repeat range: 6-54 units.
  • Fragile X syndrome (full mutation): >200 CGG repeats in the FMR1 gene's first exon.
  • Premutation range (carriers): 43-200 CGG repeats.

Conclusions:

  • Molecular diagnosis of the FMR1 gene has superseded cytogenetic markers for fragile X syndrome.
  • Understanding CGG repeat expansion is key to diagnosing fragile X syndrome and its carrier states.
  • FMR1 gene discovery facilitates improved clinical studies, family assessments, and screening programs.

Related Experiment Videos