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

Duplications in the DMD gene.

S J White1, A Aartsma-Rus, K M Flanigan

  • 1Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. s.white@lumc.nl

Human Mutation
|August 19, 2006
PubMed
Summary
This summary is machine-generated.

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

Histone deacetylase inhibition with givinostat: a multi-targeted mode of action with the potential to halt the pathological cascade of Duchenne muscular dystrophy.

Frontiers in cell and developmental biology·2025
Same author

Spatial transcriptomics reveal markers of histopathological changes in Duchenne muscular dystrophy mouse models.

Nature communications·2023
Same author

Deacetylation Inhibition Reverses PABPN1-Dependent Muscle Wasting.

iScience·2019
Same author

Natural disease history of the dy2J mouse model of laminin α2 (merosin)-deficient congenital muscular dystrophy.

PloS one·2018
Same author

Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands.

Neuromuscular disorders : NMD·2018
Same author

Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne.

Scientific reports·2017

Screening for Duchenne (DMD) and Becker Muscular Dystrophy (BMD) gene duplications is now simpler. Our study identified 118 duplications, highlighting their importance in diagnosis and revealing unique origins compared to deletions.

Area of Science:

  • Genetics
  • Molecular Biology
  • Clinical Diagnostics

Background:

  • Duplications in the Duchenne (DMD) gene have historically been overlooked in Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) diagnosis.
  • Advancements in genetic screening technologies have improved the ability to detect these rearrangements.

Purpose of the Study:

  • To report the detection and analysis of 118 duplications within the DMD gene in patients with DMD/BMD.
  • To investigate the frequency, distribution, and molecular mechanisms of DMD gene duplications.

Main Methods:

  • Analysis of 118 duplications in DMD/BMD patients.
  • Screening of unselected patient series and patients pre-screened for deletions/point mutations.
  • RNA analysis in select cases to investigate transcript consequences.

Related Experiment Videos

  • Breakpoint sequencing to determine molecular origins.

    • Main Results:

    • Duplications were found in 7% of an unselected patient cohort and 87% of patients already screened for other mutations.
    • Four complex rearrangements, including two with triplications, were identified.
    • A case of apparent contiguous duplication revealed a complex duplication/deletion event impacting RNA transcripts.
    • Duplication frequency is highest at the 5' end of the DMD gene, with exon 2 duplication being most common.
    • Breakpoint analysis suggests synthesis-dependent nonhomologous end joining as the likely mechanism, differing from deletion origins.

    Conclusions:

    • Duplications require careful consideration in clinical DMD/BMD diagnosis, and the reading frame rule may not always apply without further analysis.
    • The distribution and origin of DMD gene duplications differ significantly from those of deletions.
    • Identifying specific recombination hotspots, like those in intron 2 for exon 2 duplications, aids in understanding disease mechanisms.