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

Is Rett syndrome caused by a triplet repeat expansion?

S Hofferbert1, N C Schanen, S S Budden

  • 1Department of Genetics, Stanford University School of Medicine, California, USA.

Neuropediatrics
|June 1, 1997
PubMed
Summary

This study investigated triplet repeat expansions (TREs) as a cause for Rett syndrome. Researchers found no evidence of large TREs, ruling out this specific genetic mechanism for the disorder.

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

Mecp2 deficiency decreases bone formation and reduces bone volume in a rodent model of Rett syndrome.

Bone·2009
Same author

Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number.

Journal of medical genetics·2008
Same author

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

American journal of human genetics·2007
Same author

Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy: another mechanism for partial hexasomy.

Human genetics·2004
Same author

The human genome project: implications for the endocrinologist.

Journal of pediatric endocrinology & metabolism : JPEM·2002
Same author

Bone histomorphometry in three females with Rett syndrome.

Brain & development·2001

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Rett syndrome is a rare neurodevelopmental disorder.
  • While typically sporadic, rare familial cases and phenomena like anticipation suggested a potential genetic cause.
  • Triplet repeat expansions (TREs) were hypothesized as a possible mechanism.

Purpose of the Study:

  • To systematically screen Rett syndrome patients and controls for triplet repeat expansions (TREs).
  • To investigate the potential role of TREs in the etiology of Rett syndrome.

Main Methods:

  • Utilized a modified Repeat Expansion Detection (RED) assay.
  • Screened 26 sporadic and six familial Rett probands and controls.
  • Assay was previously validated for detecting expanded disease alleles in other genetic disorders.

Related Experiment Videos

Main Results:

  • No significant triplet repeat expansions (TREs) were detected in the screened Rett syndrome cohort.
  • The findings exclude large TREs as a causative factor for Rett syndrome.
  • The possibility of small TREs, masked by normal population variations, cannot be entirely ruled out.

Conclusions:

  • Large triplet repeat expansions (TREs) are not a cause of Rett syndrome.
  • Further investigation into smaller, potentially masked TREs may be warranted.
  • This study narrows down the potential genetic causes of Rett syndrome.