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

Novel mutations in Sanfilippo A syndrome: implications for enzyme function

B Weber1, X H Guo, J E Wraith

  • 1Department of Chemical Pathology, Women's and Children's Hospital, North Adelaide, Australia. weberb@wch.sa.gov.au

Human Molecular Genetics
|September 1, 1997
PubMed
Summary

Sanfilippo syndrome type A (MPS IIIA) is a genetic disorder. Researchers identified 16 new mutations, helping to diagnose and counsel patients with this neurodegenerative condition.

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

Intercellular Communication via Mitotic Nanotubes is Influenced by Connexin-43 Trafficking and Actin Remodeling.

bioRxiv : the preprint server for biology·2026
Same author

A phase I/IIa study of auceliciclib in patients with advanced solid tumours and in combination with temozolomide in patients with recurrent/relapsed high-grade glioma.

ESMO open·2026
Same author

Antidiuretic hormone concentrations in dogs with heart disease and relationship to serum chloride.

Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology·2025
Same author

A remote monitoring approach for coastal engineering projects.

Scientific reports·2025
Same author

Exploring management and outcomes of elderly patients with glioblastoma using data from two randomised trials (GEINO1401/EX-TEM).

Journal of neuro-oncology·2024
Same author

Clinical outcomes for sexual and gender minority adolescents in a dialectical behaviour therapy programme.

Behavioural and cognitive psychotherapy·2024

Area of Science:

  • Genetics
  • Biochemistry
  • Neuroscience

Background:

  • Sanfilippo syndrome type A (MPS IIIA) is an autosomal recessive lysosomal storage disorder.
  • It results from sulfamidase deficiency, leading to heparan sulfate accumulation.
  • This causes severe neurodegeneration, dementia, and behavioral issues.

Purpose of the Study:

  • To identify novel mutations causing Sanfilippo syndrome type A.
  • To characterize pathogenic alleles in patients from diverse geographic regions.
  • To understand the geographic distribution of specific mutations like R245H.

Main Methods:

  • Screening of 109 patients for known and novel mutations.
  • Using Single-Strand Conformation Polymorphism (SSCP) analysis of exons.

Related Experiment Videos

  • DNA sequencing to identify and characterize sequence variants.

    • Main Results:

    • Identified 16 novel sequence variants, with 12 deemed pathogenic.
    • The majority of pathogenic variants were missense mutations (single base pair changes).
    • Characterized 55% of pathogenic alleles; R245H mutation frequency varies geographically (31% Australasia, 19.2% UK, 57.8% Netherlands).

    Conclusions:

    • Novel mutations were identified in Sanfilippo syndrome type A.
    • Geographic clustering of specific mutations (e.g., R245H) was observed.
    • Mutation identification aids diagnosis, carrier testing, and genetic counseling for MPS IIIA.